{"id":5162,"date":"2019-06-24T17:27:20","date_gmt":"2019-06-24T17:27:20","guid":{"rendered":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/chapter\/17-3-digestion-and-absorption-3\/"},"modified":"2023-11-30T23:11:04","modified_gmt":"2023-11-30T23:11:04","slug":"17-3-digestion-and-absorption-3","status":"publish","type":"chapter","link":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/chapter\/17-3-digestion-and-absorption-3\/","title":{"raw":"15.3\u00a0Digestion and Absorption","rendered":"15.3\u00a0Digestion and Absorption"},"content":{"raw":"&nbsp;\r\n\r\n[caption id=\"attachment_4590\" align=\"aligncenter\" width=\"400\"]<img class=\"wp-image-4590\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Patrick_Bertoletti_eating_hot_dogs-2.jpg\" alt=\"15.3.1 Hot Dog Eating Contest\" width=\"400\" height=\"409\" \/> <em>Figure 15.3.1 Now that's a mouthful.<\/em>[\/caption]\r\n\r\n<div>\r\n<h1>Competitive Eating<\/h1>\r\n<\/div>\r\nThis man is on his way to coming in third in an international hot dog eating contest (Figure 15.3.1). It may look as though he is regurgitating his hot dogs, but in fact, he is trying to get them into his mouth and down his throat as quickly as he can. In order to eat as many hot dogs as possible in the allotted time, he pushes several into his mouth at once, and doesn\u2019t bother doing much chewing. Chewing is normally the first step in the process of digestion.\r\n<div>\r\n<h1>Digestion<\/h1>\r\n<\/div>\r\n<strong>[pb_glossary id=\"4549\"]Digestion[\/pb_glossary]<\/strong>\u00a0of food is a form of [pb_glossary id=\"5721\"]catabolism[\/pb_glossary], in which the food is broken down into small molecules that the body can absorb and use for energy, growth, and repair. Digestion occurs when food is moved through the digestive system. This process begins in the [pb_glossary id=\"4297\"]mouth[\/pb_glossary] and ends in the [pb_glossary id=\"4559\"]small intestine[\/pb_glossary]. The final products of digestion are absorbed from the digestive tract, primarily in the small intestine. There are two different types of digestion that occur in the digestive system: [pb_glossary id=\"4550\"]mechanical digestion[\/pb_glossary] and [pb_glossary id=\"4551\"]chemical digestion[\/pb_glossary]. Figure 15.3.2 summarizes the roles played by different digestive organs in mechanical and chemical digestion, both of which are described in detail below.\r\n<div>\r\n\r\n[caption id=\"attachment_4591\" align=\"aligncenter\" width=\"446\"]<img class=\" wp-image-4591\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/2426_Mechanical_and_Chemical_DigestionN-2.jpg\" alt=\"15.3.2 Mechanical and Chemical Digestion\" width=\"446\" height=\"554\" \/> <em>Figure 15.3.2 Mechanical and chemical digestion along the GI tract.<\/em>[\/caption]\r\n\r\n<\/div>\r\n<div>\r\n<h2>Mechanical Digestion<\/h2>\r\n<\/div>\r\n&nbsp;\r\n\r\n[caption id=\"attachment_4592\" align=\"alignright\" width=\"192\"]<img class=\" wp-image-4592\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Eating-by-demorris-byrd-9BF6fBTnYA-unsplash-scaled-3.jpg\" alt=\"15.3.3\" width=\"192\" height=\"288\" \/> <em>Figure 15.3.3 The teeth play an important role in the mechanical digestion of food, starting with the first bite.<\/em>[\/caption]\r\n\r\n<strong>[pb_glossary id=\"4550\"]Mechanical digestion[\/pb_glossary]<\/strong> is a physical process in which food is broken into smaller pieces without becoming changed chemically. It begins with your first bite of food (see Figure 15.3.3) and continues as you chew food with your teeth into smaller pieces. The process of mechanical digestion continues in the stomach. This muscular organ churns and mixes the food it contains, an action that breaks any solid food into still smaller pieces.\r\n\r\nAlthough some mechanical digestion also occurs in the\u00a0small intestine, it is mostly completed by the time food leaves the stomach. At that stage, food in the GI tract has been changed to the thick semi-fluid called [pb_glossary id=\"4582\"]chyme[\/pb_glossary]. Mechanical digestion is necessary so that chemical digestion can be effective. Mechanical digestion tremendously increases the [pb_glossary id=\"4593\"]surface area[\/pb_glossary] of food particles so they can be acted upon more effectively by digestive\u00a0enzymes.\r\n<h2>Chemical Digestion<\/h2>\r\n<strong>[pb_glossary id=\"4551\"]Chemical digestion[\/pb_glossary]<\/strong>\u00a0is the biochemical process in which [pb_glossary id=\"5777\"]macromolecule<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\">[\/pb_glossary]<\/span><span style=\"text-align: initial; font-size: 1em;\"> in food are changed into smaller molecules that can be absorbed into body fluids and transported to\u00a0cells throughout the body. Substances in food that must be chemically digested include\u00a0[pb_glossary id=\"5655\"]carbohydrates[\/pb_glossary],\u00a0[pb_glossary id=\"5813\"]protein<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\">[\/pb_glossary]<\/span><span style=\"font-size: 1em; text-align: initial;\">,\u00a0[pb_glossary id=\"5651\"]lipid<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\">[\/pb_glossary]<\/span><span style=\"font-size: 1em; text-align: initial;\">, and\u00a0[pb_glossary id=\"5475\"]nucleic acids[\/pb_glossary]. Carbohydrates must be broken down into simple [pb_glossary id=\"316\"]sugar<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\">[\/pb_glossary]<\/span><span style=\"font-size: 1em; text-align: initial;\">, proteins into\u00a0[pb_glossary id=\"5707\"]amino acid<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\">[\/pb_glossary]<\/span><span style=\"font-size: 1em; text-align: initial;\">, lipids into [pb_glossary id=\"5657\"]fatty acids[\/pb_glossary] and glycerol, and nucleic acids into nitrogen bases and sugars. Some chemical digestion takes place in the mouth and stomach, but most of it occurs in the first part of the\u00a0small intestine\u00a0([pb_glossary id=\"4576\"]duodenum[\/pb_glossary]).<\/span>\r\n<h3>Digestive\u00a0Enzymes<\/h3>\r\nChemical digestion could not occur without the help of many different digestive enzymes.\u00a0<strong>[pb_glossary id=\"5757\"]Enzymes[\/pb_glossary]<\/strong>\u00a0are\u00a0proteins\u00a0that catalyze, or\u00a0speed\u00a0up,\u00a0biochemical reactions. Digestive enzymes are secreted by [pb_glossary id=\"6001\"]exocrine gland<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\">[\/pb_glossary]<\/span><span style=\"text-align: initial; font-size: 1em;\">\u00a0or by the [pb_glossary id=\"4561\"]mucosal layer[\/pb_glossary] of epithelium lining the gastrointestinal tract. In the [pb_glossary id=\"4297\"]mouth[\/pb_glossary], digestive enzymes are secreted by [pb_glossary id=\"4577\"]salivary gland<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\">[\/pb_glossary]<\/span><span style=\"font-size: 1em; text-align: initial;\">. The lining of the [pb_glossary id=\"4558\"]stomach[\/pb_glossary] secretes enzymes, as does the lining of the [pb_glossary id=\"4559\"]small intestine[\/pb_glossary]. Many more digestive enzymes are secreted by exocrine\u00a0cells\u00a0in the\u00a0[pb_glossary id=\"3197\"]pancreas[\/pb_glossary] and carried by ducts to the small intestine. The following table lists several important digestive enzymes, the organs and\/or glands that secrete them, the compounds they digest, and the pH necessary for optimal functioning. You can read more about them below.<\/span>\r\n<table class=\"grid\" style=\"height: 252px; width: 100%;\"><caption>Table 15.3.1: Digestive Enzymes<\/caption>\r\n<tbody>\r\n<tr style=\"height: 15px;\">\r\n<th scope=\"col\">Digestive\u00a0Enzyme<\/th>\r\n<th scope=\"col\">Source Organ<\/th>\r\n<th scope=\"col\">Site of Action<\/th>\r\n<th scope=\"col\">Reactant and Product<\/th>\r\n<th scope=\"col\">Optimal\u00a0pH<\/th>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Salivary Amylase<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Salivary Glands<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Mouth<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">starch + water \u21d2 maltose<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Neutral<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Pepsin<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Stomach<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Stomach<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">protein + water \u21d2 peptides<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Acidic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 29px;\">\r\n<td style=\"width: 137.042px; height: 29px;\">Pancreatic Amylase<\/td>\r\n<td style=\"width: 116.375px; height: 29px;\">Pancreas<\/td>\r\n<td style=\"width: 118.375px; height: 29px;\">Duodenum<\/td>\r\n<td style=\"width: 217.042px; height: 29px;\">starch + water \u21d2 maltose<\/td>\r\n<td style=\"width: 193.042px; height: 29px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Maltase<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">maltose + water \u21d2 glucose<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Sucrase<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">sucrose + water \u21d2 glucose + fructose<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Lactase<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">lactose + water \u21d2\u00a0 glucose + galactose<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Lipase<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">fat droplet and water \u21d2\u00a0 glycerol and fatty acids<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Trypsin<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">protein + water \u21d2 peptides<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Chymotrypsin<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">protein + water \u21d2 peptides<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 14px;\">\r\n<td style=\"width: 137.042px; height: 14px;\">Peptidases<\/td>\r\n<td style=\"width: 116.375px; height: 14px;\">Small intestine<\/td>\r\n<td style=\"width: 118.375px; height: 14px;\">Small intestine<\/td>\r\n<td style=\"width: 217.042px; height: 14px;\">peptides + water \u21d2<\/td>\r\n<td style=\"width: 193.042px; height: 14px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Deoxyribonuclease<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">DNA + water \u21d2 nucleotide fragments<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Ribonuclease<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">RNA + water \u21d2 nucleotide fragments<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 15px;\">\r\n<td style=\"height: 15px; width: 137.042px;\">Nuclease<\/td>\r\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\r\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\r\n<td style=\"height: 15px; width: 217.042px;\">nucleic acids + water \u21d2 nucleotide fragments<\/td>\r\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\r\n<\/tr>\r\n<tr style=\"height: 29px;\">\r\n<td style=\"width: 137.042px; height: 29px;\">Nucleosidases<\/td>\r\n<td style=\"width: 116.375px; height: 29px;\">Small intestine<\/td>\r\n<td style=\"width: 118.375px; height: 29px;\">Small intestine<\/td>\r\n<td style=\"width: 217.042px; height: 29px;\">nucleotides + water \u21d2 nitrogen base + phosphate sugar<\/td>\r\n<td style=\"width: 193.042px; height: 29px;\">Basic<\/td>\r\n<\/tr>\r\n<\/tbody>\r\n<\/table>\r\n<h3>Chemical Digestion of\u00a0Carbohydrates<\/h3>\r\nAbout 80% of digestible carbohydrates in a typical Western diet are in the form of the plant [pb_glossary id=\"5683\"]polysaccharide[\/pb_glossary] amylose, which consists mainly of long chains of [pb_glossary id=\"5451\"]glucose[\/pb_glossary] and is one of two major components of [pb_glossary id=\"5459\"]starch[\/pb_glossary]. Additional dietary carbohydrates include the animal polysaccharide [pb_glossary id=\"327\"]glycogen[\/pb_glossary], along with some sugars, which are mainly [pb_glossary id=\"4594\"]disaccharide<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\">[\/pb_glossary]<\/span><span style=\"text-align: initial; font-size: 1em;\">.<\/span>\r\n\r\nThe process of chemical digestion for some carbohydrates is illustrated Figure 15.3.4. To chemically digest amylose and glycogen, the enzyme [pb_glossary id=\"4578\"]amylase[\/pb_glossary] is required. The chemical digestion of these polysaccharides begins in the mouth, aided by amylase in saliva. [pb_glossary id=\"4595\"]Saliva[\/pb_glossary] also contains mucus \u2014 which lubricates the food \u2014 and hydrogen carbonate, which provides the ideal alkaline conditions for amylase to work. Carbohydrate digestion is completed in the small intestine, with the help of amylase secreted by the pancreas. In the digestive process, polysaccharides are reduced in length by the breaking of bonds between glucose monomers. The macromolecules are broken down to shorter polysaccharides and disaccharides, resulting in progressively shorter chains of glucose. The end result is molecules of the simple sugars glucose and maltose (which consists of two glucose molecules), both of which can be absorbed by the small intestine.\r\n\r\nOther sugars are digested with the help of different enzymes produced by the small intestine. Sucrose (or table sugar), for example, is a disaccharide that is broken down by the enzyme sucrase to form glucose and fructose, which are readily absorbed by the small intestine. Digestion of the sugar lactose, which is found in milk, requires the enzyme lactase, which breaks down lactose into glucose and galactose. Glucose and galactose are then absorbed by the small intestine. Fewer than half of all adults produce sufficient lactase to be able to digest lactose. Those who cannot are said to be lactose intolerant.\r\n\r\n[caption id=\"attachment_4596\" align=\"aligncenter\" width=\"853\"]<img class=\"size-full wp-image-4596\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Carbohydrate-digestion-by-Nutritional-Doublethink-on-Flickr-2.jpg\" alt=\"15.3.4\" width=\"853\" height=\"447\" \/> <em>Figure 15.3.4 The process of chemical digestion for some carbohydrates.<\/em>[\/caption]\r\n<h3>Chemical Digestion of\u00a0Proteins<\/h3>\r\n[pb_glossary id=\"1593\"]Proteins[\/pb_glossary] consist of polypeptides, which must be broken down into their constituent\u00a0[pb_glossary id=\"5707\"]amino acid<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\">[\/pb_glossary]<\/span><span style=\"text-align: initial; font-size: 1em;\"> before they can be absorbed. An overview of this process is shown in Figure 15.3.5. Protein digestion occurs in the stomach and small intestine through the action of three primary enzymes: [pb_glossary id=\"4581\"]pepsin[\/pb_glossary] (secreted by the stomach), and [pb_glossary id=\"4597\"]trypsin[\/pb_glossary] and [pb_glossary id=\"4598\"]chymotrypsin[\/pb_glossary] (secreted by the pancreas). The stomach also secretes hydrochloric acid (HCl), making the contents highly acidic, which is a required condition for pepsin to work. Trypsin and chymotrypsin in the small intestine require an alkaline (basic) environment to work. [pb_glossary id=\"4599\"]Bile[\/pb_glossary] from the [pb_glossary id=\"2989\"]liver [\/pb_glossary]and bicarbonate from the pancreas neutralize the acidic [pb_glossary id=\"4582\"]chyme[\/pb_glossary] as it empties into the small intestine. After pepsin, trypsin, and chymotrypsin break down proteins into peptides, these are further broken down into amino acids by other enzymes called [pb_glossary id=\"4600\"]peptidase<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\">[\/pb_glossary]<\/span><span style=\"font-size: 1em; text-align: initial;\">, also secreted by the pancreas.<\/span>\r\n\r\n[caption id=\"attachment_4601\" align=\"aligncenter\" width=\"316\"]<img class=\"wp-image-4601\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Peptide-Digestion-by-Nutritional-Doublethink-on-Flickr-2.jpg\" alt=\"15.3.5\" width=\"316\" height=\"500\" \/> <em>Figure 15.3.5 Chemical digestion of proteins.<\/em>[\/caption]\r\n<h3>Chemical Digestion of\u00a0Lipids<\/h3>\r\nThe chemical digestion of\u00a0lipids\u00a0begins in the mouth. The salivary glands secrete the digestive enzyme [pb_glossary id=\"4602\"]lipase[\/pb_glossary], which breaks down short-chain lipids into molecules consisting of two fatty acids. A tiny amount of\u00a0lipid\u00a0digestion may take place in the stomach, but most lipid digestion occurs in the small intestine.\r\n\r\nDigestion of lipids in the small intestine occurs with the help of another lipase enzyme from the pancreas, as well as bile secreted by the [pb_glossary id=\"2989\"]liver[\/pb_glossary]. As shown in the diagram below (Figure 15.3.6), bile is required for the digestion of lipids, because lipids are oily and do not dissolve in the watery chyme. Bile emulsifies (or breaks up) large globules of food lipids into much smaller ones, called micelles, much as dish detergent breaks up grease. The micelles provide a great deal more surface area to be acted upon by lipase, and also point the hydrophilic (\u201cwater-loving\u201d) heads of the fatty acids outward into the watery chyme. Lipase can then access and break down the micelles into individual fatty acid molecules.\r\n\r\n[caption id=\"attachment_4603\" align=\"aligncenter\" width=\"500\"]<img class=\"size-full wp-image-4603\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/f-d_2cd5d5d9f5207f31bcb1e4c0999fe1293e55ac837b592f0544c4ca7cIMAGE_THUMB_POSTCARD_TINYIMAGE_THUMB_POSTCARD_TINY-2.png\" alt=\"15.3.6 Fat Digestion\" width=\"500\" height=\"322\" \/> <em>Figure 15.3.6 <\/em><em>Bile from the liver and lipase from the pancreas help digest lipids in the small intestine.<\/em>[\/caption]\r\n\r\n<div>\r\n<h3>Chemical Digestion of Nucleic Acids<\/h3>\r\n<\/div>\r\nNucleic acids (DNA\u00a0and RNA) in foods are digested in the small intestine with the help of both pancreatic enzymes and enzymes produced by the small intestine itself. Pancreatic enzymes called ribonuclease and deoxyribonuclease break down\u00a0RNA\u00a0and DNA, respectively, into smaller nucleic acids. These, in turn, are further broken down into nitrogen bases and sugars by small intestine enzymes called nucleases.\r\n<h3>Bacteria\u00a0in the\u00a0Digestive System<\/h3>\r\n<p id=\"x-ck12-MDQ0MTEwMWIwZGNlMTFjMjY1MGM2MDIyOWI5ZjIzY2Y.-364\">Your\u00a0large intestine\u00a0is not just made up of\u00a0cells. It is also an\u00a0[pb_glossary id=\"5743\"]<strong>ecosystem<\/strong>[\/pb_glossary], home to trillions of bacteria known as the \"gut flora\" (Figure 15.3.7). But don't worry, most of these bacteria are helpful. Friendly bacteria live mostly in the large intestine and part of the small intestine. The acidic environment of the stomach does not allow bacterial growth.<\/p>\r\n<p id=\"x-ck12-ZWU4MjNiMTM2OWIwOTQ4NzNlNjQyYzQwNTQ0ZWNiYWI.-anw\">Gut bacteria have several roles in the body. For example, intestinal bacteria:<\/p>\r\n\r\n<ul id=\"x-ck12-ZTI1ZGMyZDY0OGQ0NGNjMTk0NzAzNDJkN2JjYjgzZTc.-95x\">\r\n \t<li>Produce\u00a0vitamin B12\u00a0and\u00a0vitamin K.<\/li>\r\n \t<li>Control the growth of harmful bacteria.<\/li>\r\n \t<li>Break down poisons in the\u00a0large intestine.<\/li>\r\n \t<li>Break down some substances in food that cannot be digested, such as fibre and some starches and sugars. Bacteria produce enzymes that digest carbohydrates in plant cell walls. Most of the nutritional value of plant material would be wasted without these bacteria. These help us digest plant foods like spinach.<\/li>\r\n<\/ul>\r\n<div id=\"x-ck12-ZjdiNWQ4OTY5NzQ4MGNjYzkxZWY3NWYxYTY3ODRkOGY.-sdb\" class=\"x-ck12-img-postcard x-ck12-nofloat\">\r\n\r\n[caption id=\"attachment_4604\" align=\"aligncenter\" width=\"400\"]<img class=\"wp-image-4604\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Gut-Flora-by-NIH-Image-Gallery-on-Flickr-2.jpg\" alt=\"15.3.7\" width=\"400\" height=\"300\" \/> <em>Figure 15.3.7 Commensal (good) bacteria (shown in red) reside among the mucus (green) and epithelial cells (blue) of a small intestine.<\/em>[\/caption]\r\n\r\n<\/div>\r\n<p id=\"x-ck12-ZmVlNzRmZjQ4ODA2NzFkNmQ1ZTQ2N2I5OTdkNjYzYTA.-onq\">A wide range of friendly bacteria live in the gut. Bacteria begin to populate the human\u00a0digestive system right after birth. Gut bacteria include <em>Lactobacillus<\/em>, the bacteria commonly used in probiotic foods such as yogurt, and\u00a0<em>E. coli<\/em>\u00a0bacteria. About a third of all bacteria in the gut are members of the\u00a0<em>Bacteroides<\/em>\u00a0species.\u00a0<em>Bacteroides<\/em>\u00a0are key in helping us digest plant food.<\/p>\r\n<p id=\"x-ck12-OTIzMWRlZWM4NzhmZjVjYmMyYmM3NGZlMGJhMmVmYWE.-ltm\">It is estimated that 100 trillion bacteria live in the gut. This is more than the human cells that make up you. It has also been estimated that there are more bacteria in your mouth than people on the planet \u2014 there are over 7 billion people on the planet!<\/p>\r\n<p id=\"x-ck12-ODU2NDVkODc1YTM5N2M2OGJiNjdkMmRhM2I5MjdkYjM.-65g\">The bacteria in your digestive system are from anywhere between 300 and 1,000 species. As these bacteria are helpful, your body does not attack them. They actually appear to the body's immune system as cells of the digestive system, not foreign invaders. The bacteria actually cover themselves with sugar molecules removed from the actual cells of the digestive system. This disguises the bacteria and protects them from the immune system.<\/p>\r\n<p id=\"x-ck12-ODc2Zjk5Y2ZkZmFkMDE4NWU3OGE3ZDFhZjNiMmQwNGU.-ecg\">As the bacteria that live in the human gut are beneficial to us, and as the bacteria enjoy a safe environment to live, the relationship that we have with these tiny organisms is described as mutualism, a type of symbiotic relationship.<\/p>\r\n<p id=\"x-ck12-ZTJkZmQ5OTExZjllODIwZmU5OGQwZmRhMDc5MjBkMWU.-5ie\">Lastly, keep in mind the small size of bacteria. Together, all the bacteria in your gut may weigh just about two pounds.<\/p>\r\n\r\n<h2>Control of the Digestive Process<\/h2>\r\nThe process of digestion is controlled by both hormones and nerves. Hormonal control is mainly by [pb_glossary id=\"5985\"]endocrine[\/pb_glossary] hormones secreted by cells in the lining of the stomach and small intestine. These hormones stimulate the production of digestive enzymes, bicarbonate, and bile. The hormone secretin, for example, is produced by endocrine cells lining the duodenum of the small intestine. Acidic chyme entering the duodenum from the stomach triggers the release of secretin into the bloodstream. When the secretin returns via the circulation to the digestive system, it signals the release of bicarbonate from the pancreas. The bicarbonate neutralizes the acidic chyme.\u00a0 See Table 15.3.2 for a summary of the major hormones governing the process of chemical digestion.\r\n<table class=\"grid\" style=\"border-collapse: collapse; width: 100%; height: 239px;\" border=\"0\"><caption>Table 15.3.2: Major Hormones Governing Chemical Digestion<\/caption>\r\n<tbody>\r\n<tr>\r\n<th scope=\"col\">Hormone<\/th>\r\n<th scope=\"col\">Source Organ<\/th>\r\n<th scope=\"col\">Target Organ<\/th>\r\n<th scope=\"col\">Trigger<\/th>\r\n<th scope=\"col\">Result<\/th>\r\n<\/tr>\r\n<tr>\r\n<th scope=\"row\">Gastrin<\/th>\r\n<td style=\"width: 17.0129%;\">Stomach walls<\/td>\r\n<td style=\"width: 16.1039%;\">Stomach<\/td>\r\n<td style=\"width: 23.8961%;\">High protein intake<\/td>\r\n<td style=\"width: 37.9925%;\">HCL and pepsin release, stomach churning<\/td>\r\n<\/tr>\r\n<tr>\r\n<th scope=\"row\">Secretin<\/th>\r\n<td style=\"width: 17.0129%;\">Duodenum<\/td>\r\n<td style=\"width: 16.1039%;\">Pancreas\r\n\r\nGallbladder<\/td>\r\n<td style=\"width: 23.8961%;\">Acidic chyme entering the duodenum<\/td>\r\n<td style=\"width: 37.9925%;\">Release sodium bicarbonate, release bile<\/td>\r\n<\/tr>\r\n<tr>\r\n<th scope=\"row\">Cholecystokinin (CCK)<\/th>\r\n<td style=\"width: 17.0129%;\">Duodenum<\/td>\r\n<td style=\"width: 16.1039%;\">Pancreas\r\n\r\nGallbladder<\/td>\r\n<td style=\"width: 23.8961%;\">Partially digested fat and protein in duodenum<\/td>\r\n<td style=\"width: 37.9925%;\">Release lipase, trypsin, release bile<\/td>\r\n<\/tr>\r\n<\/tbody>\r\n<\/table>\r\nNerves involved in digestion include those that connect digestive organs to the\u00a0[pb_glossary id=\"5933\"]central nervous system[\/pb_glossary], as well as nerves inside the walls of the digestive organs. Nerves connecting the digestive organs to the central nervous system cause smooth\u00a0muscles\u00a0in the walls of digestive organs to contract or relax as needed, depending on whether or not there is food to be digested. Nerves within digestive organs are stimulated when food enters the organs and stretches their walls. These nerves trigger the release of substances that\u00a0speed\u00a0up or slow down the movement of food through the GI tract and the secretion of digestive enzymes.\r\n<div>\r\n<h1>Absorption<\/h1>\r\n<\/div>\r\nWhen digestion is finished, it results in many simple nutrient molecules that must go through the process of\u00a0<strong>[pb_glossary id=\"4553\"]absorption[\/pb_glossary]<\/strong>\u00a0from the lumen of the GI tract\u00a0to\u00a0[pb_glossary id=\"2702\"]blood[\/pb_glossary]\u00a0or [pb_glossary id=\"4552\"]lymph [\/pb_glossary] vessels, so they can be transported to and used by cells throughout the body. A few substances are absorbed in the [pb_glossary id=\"4558\"]stomach[\/pb_glossary] and\u00a0[pb_glossary id=\"4560\"]large intestine[\/pb_glossary]. Water is absorbed in both of these organs, and some minerals and vitamins are also absorbed in the large intestine, but about 95% of nutrient molecules are absorbed in the small intestine. Absorption of the majority of these molecules takes place in the second part of the small intestine, called the [pb_glossary id=\"4605\"]jejunum[\/pb_glossary]. There are, however, a few exceptions \u2014 for example, iron is absorbed in the [pb_glossary id=\"4576\"]duodenum[\/pb_glossary], and vitamin B12 is absorbed in the last part of the small intestine, called the [pb_glossary id=\"4606\"]ileum[\/pb_glossary]. After being absorbed in the small intestine, nutrient molecules are transported to other parts of the body for storage or further chemical modification. Amino acids, for instance, are transported to the liver to be used for protein synthesis.\r\n\r\nThe epithelial tissue lining the small intestine is specialized for absorption. It is highly enfolded and is covered with [pb_glossary id=\"4543\"]villi[\/pb_glossary] and [pb_glossary id=\"4583\"]microvilli[\/pb_glossary], creating an enormous surface area for absorption. As shown in Figure 15.3.8, each villus also has a network of blood [pb_glossary id=\"5923\"]capillaries[\/pb_glossary] and fine lymphatic vessels called [pb_glossary id=\"4607\"]lacteal<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\">[\/pb_glossary]<\/span><span style=\"text-align: initial; font-size: 1em;\">\u00a0close to its surface. The thin surface layer of epithelial cells of the villi transports nutrients from the lumen of the small intestine into these capillaries and lacteals. Blood in the capillaries absorbs most of the molecules, including simple sugars, amino acids, glycerol, salts, and water-soluble vitamins (vitamin C and the many B vitamins). Lymph in the lacteals absorbs fatty acids and fat-soluble vitamins (vitamins A, D, E, and K).<\/span>\r\n\r\n[caption id=\"attachment_4608\" align=\"aligncenter\" width=\"1024\"]<img class=\"size-full wp-image-4608\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Figure_34_01_11f-2.png\" alt=\"15.3.8\" width=\"1024\" height=\"484\" \/> <em>Figure 15.3.8 This simplified drawing of an intestinal villus shows the capillaries and lacteals within it that carry away absorbed substances. Note that each cell in the thin surface layer of the villus is actually covered with microvilli that greatly increase the surface area for absorption.<\/em>[\/caption]\r\n\r\n<span style=\"font-size: 1.602em; font-weight: bold;\">Feature: My Human Body<\/span>\r\n\r\nThe process of digestion does not always go as it should. Many people suffer from indigestion, or dyspepsia, a condition of impaired digestion. Symptoms may include upper abdominal fullness or pain, heartburn, nausea, belching, or some combination of these symptoms. The majority of cases of indigestion occur without evidence of an organic disease that is likely to explain the symptoms. Anxiety or certain foods or medications (such as aspirin) may be contributing factors in these cases. In other cases, indigestion is a symptom of an organic disease, most often gastroesophageal reflux disease (GERD) or gastritis. In a small minority of cases, indigestion is a symptom of a peptic ulcer of the stomach or duodenum, usually caused by a bacterial infection. Very rarely, indigestion is a sign of\u00a0cancer.\r\n\r\nAn occasional bout of indigestion is usually nothing to worry about, especially in people less than 55 years of age. However, if you suffer frequent or chronic indigestion, it\u2019s a good idea to see a doctor. If an underlying disorder such as GERD or an ulcer is causing the indigestion, this can and should be treated. If no organic disease is discovered, the doctor can recommend lifestyle changes or treatments to help prevent or soothe the symptoms of acute indigestion. Lifestyle changes might include modifications in eating habits, such as eating more slowly, eating smaller meals, or avoiding fatty foods. You also might be advised to refrain from taking certain medications, especially on an empty stomach. The use of antacids or other medications to relieve symptoms may also be recommended.\r\n<div class=\"textbox textbox--key-takeaways\"><header class=\"textbox__header\">\r\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">15.3 Summary<\/span><\/h1>\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n<ul>\r\n \t<li>Digestion is a form of catabolism, in which food is broken down into small molecules that the body can absorb and use for\u00a0energy, growth, and repair. Digestion occurs when food moves through the gastrointestinal (GI) tract. The digestive process is controlled by both hormones and nerves.<\/li>\r\n \t<li>Mechanical digestion is a physical process in which food is broken into smaller pieces without becoming chemically changed. It occurs mainly in the mouth and stomach.<\/li>\r\n \t<li>Chemical digestion is a chemical process in which macromolecules \u2014 including carbohydrates, proteins, lipids, and nucleic acids \u2014 in food are changed into simple nutrient molecules that can be absorbed into body fluids. Carbohydrates are chemically digested to sugars, proteins to amino acids, lipids to fatty acids, and nucleic acids to individual nucleotides. Chemical digestion requires digestive enzymes. Gut flora carry out additional chemical digestion.<\/li>\r\n \t<li>Absorption occurs when the simple nutrient molecules that result from digestion are absorbed into\u00a0blood\u00a0or lymph.<\/li>\r\n<\/ul>\r\n<\/div>\r\n<\/div>\r\n<div class=\"textbox textbox--exercises\"><header class=\"textbox__header\">\r\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">15.3 Review Questions<\/span><\/h1>\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n<ol>\r\n \t<li>Define digestion. Where does it occur?<\/li>\r\n \t<li>[h5p id=\"621\"]<\/li>\r\n \t<li>Identify two organ systems that control the process of digestion by the digestive system.<\/li>\r\n \t<li>What is mechanical digestion? Where does it occur?<\/li>\r\n \t<li>Describe chemical digestion.<\/li>\r\n \t<li>What is the role of enzymes in chemical digestion?<\/li>\r\n \t<li>What is absorption? When does it occur?<\/li>\r\n \t<li>Where does most absorption occur in the digestive system?\u00a0Why does most of the absorption occur in this organ, and not earlier in the GI tract?<\/li>\r\n<\/ol>\r\n<\/div>\r\n<\/div>\r\n<div class=\"textbox textbox--examples\"><header class=\"textbox__header\">\r\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">15.3 Explore More<\/span><\/h1>\r\n<\/header>\r\n<div class=\"textbox__content\">\r\n\r\nhttps:\/\/youtu.be\/awtmTJW9ic8\r\n<p style=\"text-align: center;\">Food for thought: How your belly controls your brain | Ruairi Robertson | TEDxFulbrightSantaMonica, TEDx Talks, 2015.<\/p>\r\nhttps:\/\/youtu.be\/1sISguPDlhY\r\n<p style=\"text-align: center;\">How the food you eat affects your gut - Shilpa Ravella, TED-Ed, 2017.<\/p>\r\nhttps:\/\/youtu.be\/jP-9AD0wMOk\r\n<p style=\"text-align: center;\">What causes heartburn? - Rusha Modi, TED-Ed, 2018.<\/p>\r\n\r\n<\/div>\r\n<\/div>\r\n&nbsp;\r\n<h2>Attributions<\/h2>\r\n<strong>Figure 15.3.1<\/strong>\r\n\r\n<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Patrick_Bertoletti_eating_hot_dogs.jpg\" rel=\"cc:attributionURL\">Patrick_Bertoletti_eating_hot_dogs<\/a> by Michael on Wikimedia Commons is used under a\u00a0<a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0) license.\r\n\r\n<strong>Figure 15.3.2<\/strong>\r\n\r\n<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:2426_Mechanical_and_Chemical_DigestionN.jpg\" rel=\"cc:attributionURL\">2426_Mechanical_and_Chemical_DigestionN<\/a>\u00a0by <a href=\"https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/23-7-chemical-digestion-and-absorption-a-closer-look\">OpenStax College<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/3.0) license.\r\n\r\n<strong>Figure 15.3.3<\/strong>\r\n\r\n<a href=\"https:\/\/unsplash.com\/photos\/-9BF6fBTnYA\" rel=\"cc:attributionURL\">Eating tacos<\/a> [photo] by <a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@byrdman85\">DeMorris Byrd<\/a> on <a href=\"http:\/\/unsplash.com\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).\r\n\r\n<strong>Figure 15.3.4<\/strong>\r\n\r\n<a href=\"https:\/\/www.flickr.com\/photos\/nutritionaldoublethink\/26293621276\" rel=\"cc:attributionURL\">Carbohydrate digestion<\/a> by <a class=\"owner-name truncate\" title=\"Go to Nutritional Doublethink's photostream\" href=\"https:\/\/www.flickr.com\/photos\/nutritionaldoublethink\/\" data-track=\"attributionNameClick\">Nutritional Doublethink<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/2.0\/\">CC BY-SA 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-sa\/2.0\/) license.\r\n\r\n<strong>Figure 15.3.5<\/strong>\r\n\r\n<a href=\"https:\/\/www.flickr.com\/photos\/140675010@N07\/26273143671\" rel=\"cc:attributionURL\">Peptide Digestion<\/a> by <a class=\"owner-name truncate\" title=\"Go to Nutritional Doublethink's photostream\" href=\"https:\/\/www.flickr.com\/photos\/nutritionaldoublethink\/\" data-track=\"attributionNameClick\">Nutritional Doublethink<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.\r\n\r\n<strong>Figure 15.3.6<\/strong>\r\n\r\n<a href=\"https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/17.3\/\"><span style=\"font-size: 1em;\">Bile from the liver and lipase from the pancreas help digest lipids in small intestine<\/span><\/a> by <a href=\"https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/17.3\/\">CK-12 Foundation<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\">CC BY NC 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.\r\n<div><img src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/logo_ck12.png\" alt=\"\" \/> <span style=\"font-size: 1em;\">\u00a9<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/\">CK-12 Foundation<\/a> <span style=\"font-size: 1em;\">Licensed under\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\"><img class=\"alignnone size-full wp-image-8217\" title=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/icon_licence.png\" alt=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" \/><\/a><span style=\"font-size: 1em;\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/about\/terms-of-use\/?_ga=2.129918412.1988667202.1598996862-1392032960.1592870652\">Terms of Use<\/a><span style=\"font-size: 1em;\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/about\/attribution\/\">Attribution<\/a><\/div>\r\n<strong>Figure 15.3.7<\/strong>\r\n\r\n<a href=\"https:\/\/www.flickr.com\/photos\/nihgov\/39825990953\" rel=\"cc:attributionURL\">Gut Flora by NIH Image Gallery on Flickr<\/a> by <a class=\"owner-name truncate no-outline\" title=\"Go to NIH Image Gallery's photostream\" href=\"https:\/\/www.flickr.com\/photos\/nihgov\/\" data-track=\"attributionNameClick\">NIH Image Gallery<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/2.0\/\">CC BY-NC-SA 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc-sa\/2.0\/) license.\r\n\r\n<strong>Figure 15.3.8<\/strong>\r\n\r\n<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Figure_34_01_11f.png\" rel=\"cc:attributionURL\">Figure_34_01_11f<\/a> by <a href=\"https:\/\/cnx.org\/contents\/GFy_h8cu@10.53:Oestf0YE@6\/Digestive-Systems\">CNX OpenStax<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">CC BY 4.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/4.0) license.\r\n<h2>References<\/h2>\r\n<p class=\"hanging-indent\"><span class=\"os-title-label\">Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure\u00a0<\/span><span class=\"os-number\">23.28<\/span><span class=\"os-divider\">\u00a0<\/span><span id=\"3621\" class=\"os-title\" data-type=\"title\">Digestion and absorption [digital image].\u00a0 In <em>Anatomy and Physiology<\/em> (Section 23.7). OpenStax. <\/span>https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/23-7-chemical-digestion-and-absorption-a-closer-look<\/p>\r\n<p class=\"hanging-indent\">Brainard, J\/ CK-12 Foundation. (2016). Figure 6 Both bile from the liver and lipase from the pancreas help digest lipids in the small intestine [digital image]. In <em>CK-12 College Human Biology<\/em> (Section 17.3) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/17.3\/<\/p>\r\n<p class=\"hanging-indent\">OpenStax. (2016, May 27) Figure 11 Villi are folds on the small intestine lining that increase the surface area to facilitate the absorption of nutrients. [digital image]. In <em>OpenStax, Biology<\/em> (Section 34.1). OpenStax CNX.\u00a0 https:\/\/cnx.org\/contents\/GFy_h8cu@10.53:Oestf0YE@6\/Digestive-Systems<\/p>\r\n<p class=\"hanging-indent\">TED-Ed. (2017, March 23). How the food you eat affects your gut - Shilpa Ravella. YouTube. https:\/\/www.youtube.com\/watch?v=1sISguPDlhY&amp;feature=youtu.be<\/p>\r\n<p class=\"title style-scope ytd-video-primary-info-renderer hanging-indent\">TED-Ed. (2018, November 1). What causes heartburn? - Rusha Modi. YouTube. https:\/\/www.youtube.com\/watch?v=jP-9AD0wMOk&amp;feature=youtu.be<\/p>\r\n<p class=\"title style-scope ytd-video-primary-info-renderer hanging-indent\">TEDx Talks. (2015, December 7). Food for thought: How your belly controls your brain | Ruairi Robertson | TEDxFulbrightSantaMonica. YouTube. https:\/\/www.youtube.com\/watch?v=awtmTJW9ic8&amp;feature=youtu.be<\/p>\r\n&nbsp;","rendered":"<p>&nbsp;<\/p>\n<figure id=\"attachment_4590\" aria-describedby=\"caption-attachment-4590\" style=\"width: 400px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-4590\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Patrick_Bertoletti_eating_hot_dogs-2.jpg\" alt=\"15.3.1 Hot Dog Eating Contest\" width=\"400\" height=\"409\" \/><figcaption id=\"caption-attachment-4590\" class=\"wp-caption-text\"><em>Figure 15.3.1 Now that&#8217;s a mouthful.<\/em><\/figcaption><\/figure>\n<div>\n<h1>Competitive Eating<\/h1>\n<\/div>\n<p>This man is on his way to coming in third in an international hot dog eating contest (Figure 15.3.1). It may look as though he is regurgitating his hot dogs, but in fact, he is trying to get them into his mouth and down his throat as quickly as he can. In order to eat as many hot dogs as possible in the allotted time, he pushes several into his mouth at once, and doesn\u2019t bother doing much chewing. Chewing is normally the first step in the process of digestion.<\/p>\n<div>\n<h1>Digestion<\/h1>\n<\/div>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4549\">Digestion<\/a><\/strong>\u00a0of food is a form of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5721\">catabolism<\/a>, in which the food is broken down into small molecules that the body can absorb and use for energy, growth, and repair. Digestion occurs when food is moved through the digestive system. This process begins in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4297\">mouth<\/a> and ends in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4559\">small intestine<\/a>. The final products of digestion are absorbed from the digestive tract, primarily in the small intestine. There are two different types of digestion that occur in the digestive system: <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4550\">mechanical digestion<\/a> and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4551\">chemical digestion<\/a>. Figure 15.3.2 summarizes the roles played by different digestive organs in mechanical and chemical digestion, both of which are described in detail below.<\/p>\n<div>\n<figure id=\"attachment_4591\" aria-describedby=\"caption-attachment-4591\" style=\"width: 446px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-4591\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/2426_Mechanical_and_Chemical_DigestionN-2.jpg\" alt=\"15.3.2 Mechanical and Chemical Digestion\" width=\"446\" height=\"554\" \/><figcaption id=\"caption-attachment-4591\" class=\"wp-caption-text\"><em>Figure 15.3.2 Mechanical and chemical digestion along the GI tract.<\/em><\/figcaption><\/figure>\n<\/div>\n<div>\n<h2>Mechanical Digestion<\/h2>\n<\/div>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_4592\" aria-describedby=\"caption-attachment-4592\" style=\"width: 192px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-4592\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Eating-by-demorris-byrd-9BF6fBTnYA-unsplash-scaled-3.jpg\" alt=\"15.3.3\" width=\"192\" height=\"288\" \/><figcaption id=\"caption-attachment-4592\" class=\"wp-caption-text\"><em>Figure 15.3.3 The teeth play an important role in the mechanical digestion of food, starting with the first bite.<\/em><\/figcaption><\/figure>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4550\">Mechanical digestion<\/a><\/strong> is a physical process in which food is broken into smaller pieces without becoming changed chemically. It begins with your first bite of food (see Figure 15.3.3) and continues as you chew food with your teeth into smaller pieces. The process of mechanical digestion continues in the stomach. This muscular organ churns and mixes the food it contains, an action that breaks any solid food into still smaller pieces.<\/p>\n<p>Although some mechanical digestion also occurs in the\u00a0small intestine, it is mostly completed by the time food leaves the stomach. At that stage, food in the GI tract has been changed to the thick semi-fluid called <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4582\">chyme<\/a>. Mechanical digestion is necessary so that chemical digestion can be effective. Mechanical digestion tremendously increases the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4593\">surface area<\/a> of food particles so they can be acted upon more effectively by digestive\u00a0enzymes.<\/p>\n<h2>Chemical Digestion<\/h2>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4551\">Chemical digestion<\/a><\/strong>\u00a0is the biochemical process in which <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5777\">macromolecule<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\"><\/a><\/span><span style=\"text-align: initial; font-size: 1em;\"> in food are changed into smaller molecules that can be absorbed into body fluids and transported to\u00a0cells throughout the body. Substances in food that must be chemically digested include\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5655\">carbohydrates<\/a>,\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5813\">protein<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\"><\/a><\/span><span style=\"font-size: 1em; text-align: initial;\">,\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5651\">lipid<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\"><\/a><\/span><span style=\"font-size: 1em; text-align: initial;\">, and\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5475\">nucleic acids<\/a>. Carbohydrates must be broken down into simple <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_316\">sugar<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\"><\/a><\/span><span style=\"font-size: 1em; text-align: initial;\">, proteins into\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5707\">amino acid<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\"><\/a><\/span><span style=\"font-size: 1em; text-align: initial;\">, lipids into <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5657\">fatty acids<\/a> and glycerol, and nucleic acids into nitrogen bases and sugars. Some chemical digestion takes place in the mouth and stomach, but most of it occurs in the first part of the\u00a0small intestine\u00a0(<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4576\">duodenum<\/a>).<\/span><\/p>\n<h3>Digestive\u00a0Enzymes<\/h3>\n<p>Chemical digestion could not occur without the help of many different digestive enzymes.\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5757\">Enzymes<\/a><\/strong>\u00a0are\u00a0proteins\u00a0that catalyze, or\u00a0speed\u00a0up,\u00a0biochemical reactions. Digestive enzymes are secreted by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_6001\">exocrine gland<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\"><\/a><\/span><span style=\"text-align: initial; font-size: 1em;\">\u00a0or by the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4561\">mucosal layer<\/a> of epithelium lining the gastrointestinal tract. In the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4297\">mouth<\/a>, digestive enzymes are secreted by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4577\">salivary gland<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\"><\/a><\/span><span style=\"font-size: 1em; text-align: initial;\">. The lining of the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4558\">stomach<\/a> secretes enzymes, as does the lining of the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4559\">small intestine<\/a>. Many more digestive enzymes are secreted by exocrine\u00a0cells\u00a0in the\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3197\">pancreas<\/a> and carried by ducts to the small intestine. The following table lists several important digestive enzymes, the organs and\/or glands that secrete them, the compounds they digest, and the pH necessary for optimal functioning. You can read more about them below.<\/span><\/p>\n<table class=\"grid\" style=\"height: 252px; width: 100%;\">\n<caption>Table 15.3.1: Digestive Enzymes<\/caption>\n<tbody>\n<tr style=\"height: 15px;\">\n<th scope=\"col\">Digestive\u00a0Enzyme<\/th>\n<th scope=\"col\">Source Organ<\/th>\n<th scope=\"col\">Site of Action<\/th>\n<th scope=\"col\">Reactant and Product<\/th>\n<th scope=\"col\">Optimal\u00a0pH<\/th>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Salivary Amylase<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Salivary Glands<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Mouth<\/td>\n<td style=\"height: 15px; width: 217.042px;\">starch + water \u21d2 maltose<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Neutral<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Pepsin<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Stomach<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Stomach<\/td>\n<td style=\"height: 15px; width: 217.042px;\">protein + water \u21d2 peptides<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Acidic<\/td>\n<\/tr>\n<tr style=\"height: 29px;\">\n<td style=\"width: 137.042px; height: 29px;\">Pancreatic Amylase<\/td>\n<td style=\"width: 116.375px; height: 29px;\">Pancreas<\/td>\n<td style=\"width: 118.375px; height: 29px;\">Duodenum<\/td>\n<td style=\"width: 217.042px; height: 29px;\">starch + water \u21d2 maltose<\/td>\n<td style=\"width: 193.042px; height: 29px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Maltase<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\n<td style=\"height: 15px; width: 217.042px;\">maltose + water \u21d2 glucose<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Sucrase<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\n<td style=\"height: 15px; width: 217.042px;\">sucrose + water \u21d2 glucose + fructose<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Lactase<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\n<td style=\"height: 15px; width: 217.042px;\">lactose + water \u21d2\u00a0 glucose + galactose<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Lipase<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\n<td style=\"height: 15px; width: 217.042px;\">fat droplet and water \u21d2\u00a0 glycerol and fatty acids<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Trypsin<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\n<td style=\"height: 15px; width: 217.042px;\">protein + water \u21d2 peptides<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Chymotrypsin<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\n<td style=\"height: 15px; width: 217.042px;\">protein + water \u21d2 peptides<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 14px;\">\n<td style=\"width: 137.042px; height: 14px;\">Peptidases<\/td>\n<td style=\"width: 116.375px; height: 14px;\">Small intestine<\/td>\n<td style=\"width: 118.375px; height: 14px;\">Small intestine<\/td>\n<td style=\"width: 217.042px; height: 14px;\">peptides + water \u21d2<\/td>\n<td style=\"width: 193.042px; height: 14px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Deoxyribonuclease<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\n<td style=\"height: 15px; width: 217.042px;\">DNA + water \u21d2 nucleotide fragments<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Ribonuclease<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Pancreas<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Duodenum<\/td>\n<td style=\"height: 15px; width: 217.042px;\">RNA + water \u21d2 nucleotide fragments<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 15px;\">\n<td style=\"height: 15px; width: 137.042px;\">Nuclease<\/td>\n<td style=\"height: 15px; width: 116.375px;\">Small intestine<\/td>\n<td style=\"width: 118.375px; height: 15px;\">Small intestine<\/td>\n<td style=\"height: 15px; width: 217.042px;\">nucleic acids + water \u21d2 nucleotide fragments<\/td>\n<td style=\"width: 193.042px; height: 15px;\">Basic<\/td>\n<\/tr>\n<tr style=\"height: 29px;\">\n<td style=\"width: 137.042px; height: 29px;\">Nucleosidases<\/td>\n<td style=\"width: 116.375px; height: 29px;\">Small intestine<\/td>\n<td style=\"width: 118.375px; height: 29px;\">Small intestine<\/td>\n<td style=\"width: 217.042px; height: 29px;\">nucleotides + water \u21d2 nitrogen base + phosphate sugar<\/td>\n<td style=\"width: 193.042px; height: 29px;\">Basic<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<h3>Chemical Digestion of\u00a0Carbohydrates<\/h3>\n<p>About 80% of digestible carbohydrates in a typical Western diet are in the form of the plant <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5683\">polysaccharide<\/a> amylose, which consists mainly of long chains of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5451\">glucose<\/a> and is one of two major components of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5459\">starch<\/a>. Additional dietary carbohydrates include the animal polysaccharide glycogen, along with some sugars, which are mainly <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4594\">disaccharide<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\"><\/a><\/span><span style=\"text-align: initial; font-size: 1em;\">.<\/span><\/p>\n<p>The process of chemical digestion for some carbohydrates is illustrated Figure 15.3.4. To chemically digest amylose and glycogen, the enzyme <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4578\">amylase<\/a> is required. The chemical digestion of these polysaccharides begins in the mouth, aided by amylase in saliva. <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4595\">Saliva<\/a> also contains mucus \u2014 which lubricates the food \u2014 and hydrogen carbonate, which provides the ideal alkaline conditions for amylase to work. Carbohydrate digestion is completed in the small intestine, with the help of amylase secreted by the pancreas. In the digestive process, polysaccharides are reduced in length by the breaking of bonds between glucose monomers. The macromolecules are broken down to shorter polysaccharides and disaccharides, resulting in progressively shorter chains of glucose. The end result is molecules of the simple sugars glucose and maltose (which consists of two glucose molecules), both of which can be absorbed by the small intestine.<\/p>\n<p>Other sugars are digested with the help of different enzymes produced by the small intestine. Sucrose (or table sugar), for example, is a disaccharide that is broken down by the enzyme sucrase to form glucose and fructose, which are readily absorbed by the small intestine. Digestion of the sugar lactose, which is found in milk, requires the enzyme lactase, which breaks down lactose into glucose and galactose. Glucose and galactose are then absorbed by the small intestine. Fewer than half of all adults produce sufficient lactase to be able to digest lactose. Those who cannot are said to be lactose intolerant.<\/p>\n<figure id=\"attachment_4596\" aria-describedby=\"caption-attachment-4596\" style=\"width: 853px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-4596\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Carbohydrate-digestion-by-Nutritional-Doublethink-on-Flickr-2.jpg\" alt=\"15.3.4\" width=\"853\" height=\"447\" \/><figcaption id=\"caption-attachment-4596\" class=\"wp-caption-text\"><em>Figure 15.3.4 The process of chemical digestion for some carbohydrates.<\/em><\/figcaption><\/figure>\n<h3>Chemical Digestion of\u00a0Proteins<\/h3>\n<p>Proteins consist of polypeptides, which must be broken down into their constituent\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5707\">amino acid<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\"><\/a><\/span><span style=\"text-align: initial; font-size: 1em;\"> before they can be absorbed. An overview of this process is shown in Figure 15.3.5. Protein digestion occurs in the stomach and small intestine through the action of three primary enzymes: <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4581\">pepsin<\/a> (secreted by the stomach), and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4597\">trypsin<\/a> and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4598\">chymotrypsin<\/a> (secreted by the pancreas). The stomach also secretes hydrochloric acid (HCl), making the contents highly acidic, which is a required condition for pepsin to work. Trypsin and chymotrypsin in the small intestine require an alkaline (basic) environment to work. <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4599\">Bile<\/a> from the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2989\">liver <\/a>and bicarbonate from the pancreas neutralize the acidic <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4582\">chyme<\/a> as it empties into the small intestine. After pepsin, trypsin, and chymotrypsin break down proteins into peptides, these are further broken down into amino acids by other enzymes called <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4600\">peptidase<\/span><span style=\"font-size: 1em;\">s<\/span><span style=\"font-size: 1em; text-align: initial;\"><\/a><\/span><span style=\"font-size: 1em; text-align: initial;\">, also secreted by the pancreas.<\/span><\/p>\n<figure id=\"attachment_4601\" aria-describedby=\"caption-attachment-4601\" style=\"width: 316px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-4601\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Peptide-Digestion-by-Nutritional-Doublethink-on-Flickr-2.jpg\" alt=\"15.3.5\" width=\"316\" height=\"500\" \/><figcaption id=\"caption-attachment-4601\" class=\"wp-caption-text\"><em>Figure 15.3.5 Chemical digestion of proteins.<\/em><\/figcaption><\/figure>\n<h3>Chemical Digestion of\u00a0Lipids<\/h3>\n<p>The chemical digestion of\u00a0lipids\u00a0begins in the mouth. The salivary glands secrete the digestive enzyme <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4602\">lipase<\/a>, which breaks down short-chain lipids into molecules consisting of two fatty acids. A tiny amount of\u00a0lipid\u00a0digestion may take place in the stomach, but most lipid digestion occurs in the small intestine.<\/p>\n<p>Digestion of lipids in the small intestine occurs with the help of another lipase enzyme from the pancreas, as well as bile secreted by the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2989\">liver<\/a>. As shown in the diagram below (Figure 15.3.6), bile is required for the digestion of lipids, because lipids are oily and do not dissolve in the watery chyme. Bile emulsifies (or breaks up) large globules of food lipids into much smaller ones, called micelles, much as dish detergent breaks up grease. The micelles provide a great deal more surface area to be acted upon by lipase, and also point the hydrophilic (\u201cwater-loving\u201d) heads of the fatty acids outward into the watery chyme. Lipase can then access and break down the micelles into individual fatty acid molecules.<\/p>\n<figure id=\"attachment_4603\" aria-describedby=\"caption-attachment-4603\" style=\"width: 500px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-4603\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/f-d_2cd5d5d9f5207f31bcb1e4c0999fe1293e55ac837b592f0544c4ca7cIMAGE_THUMB_POSTCARD_TINYIMAGE_THUMB_POSTCARD_TINY-2.png\" alt=\"15.3.6 Fat Digestion\" width=\"500\" height=\"322\" \/><figcaption id=\"caption-attachment-4603\" class=\"wp-caption-text\"><em>Figure 15.3.6 <\/em><em>Bile from the liver and lipase from the pancreas help digest lipids in the small intestine.<\/em><\/figcaption><\/figure>\n<div>\n<h3>Chemical Digestion of Nucleic Acids<\/h3>\n<\/div>\n<p>Nucleic acids (DNA\u00a0and RNA) in foods are digested in the small intestine with the help of both pancreatic enzymes and enzymes produced by the small intestine itself. Pancreatic enzymes called ribonuclease and deoxyribonuclease break down\u00a0RNA\u00a0and DNA, respectively, into smaller nucleic acids. These, in turn, are further broken down into nitrogen bases and sugars by small intestine enzymes called nucleases.<\/p>\n<h3>Bacteria\u00a0in the\u00a0Digestive System<\/h3>\n<p id=\"x-ck12-MDQ0MTEwMWIwZGNlMTFjMjY1MGM2MDIyOWI5ZjIzY2Y.-364\">Your\u00a0large intestine\u00a0is not just made up of\u00a0cells. It is also an\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5743\"><strong>ecosystem<\/strong><\/a>, home to trillions of bacteria known as the &#8220;gut flora&#8221; (Figure 15.3.7). But don&#8217;t worry, most of these bacteria are helpful. Friendly bacteria live mostly in the large intestine and part of the small intestine. The acidic environment of the stomach does not allow bacterial growth.<\/p>\n<p id=\"x-ck12-ZWU4MjNiMTM2OWIwOTQ4NzNlNjQyYzQwNTQ0ZWNiYWI.-anw\">Gut bacteria have several roles in the body. For example, intestinal bacteria:<\/p>\n<ul id=\"x-ck12-ZTI1ZGMyZDY0OGQ0NGNjMTk0NzAzNDJkN2JjYjgzZTc.-95x\">\n<li>Produce\u00a0vitamin B12\u00a0and\u00a0vitamin K.<\/li>\n<li>Control the growth of harmful bacteria.<\/li>\n<li>Break down poisons in the\u00a0large intestine.<\/li>\n<li>Break down some substances in food that cannot be digested, such as fibre and some starches and sugars. Bacteria produce enzymes that digest carbohydrates in plant cell walls. Most of the nutritional value of plant material would be wasted without these bacteria. These help us digest plant foods like spinach.<\/li>\n<\/ul>\n<div id=\"x-ck12-ZjdiNWQ4OTY5NzQ4MGNjYzkxZWY3NWYxYTY3ODRkOGY.-sdb\" class=\"x-ck12-img-postcard x-ck12-nofloat\">\n<figure id=\"attachment_4604\" aria-describedby=\"caption-attachment-4604\" style=\"width: 400px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-4604\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Gut-Flora-by-NIH-Image-Gallery-on-Flickr-2.jpg\" alt=\"15.3.7\" width=\"400\" height=\"300\" \/><figcaption id=\"caption-attachment-4604\" class=\"wp-caption-text\"><em>Figure 15.3.7 Commensal (good) bacteria (shown in red) reside among the mucus (green) and epithelial cells (blue) of a small intestine.<\/em><\/figcaption><\/figure>\n<\/div>\n<p id=\"x-ck12-ZmVlNzRmZjQ4ODA2NzFkNmQ1ZTQ2N2I5OTdkNjYzYTA.-onq\">A wide range of friendly bacteria live in the gut. Bacteria begin to populate the human\u00a0digestive system right after birth. Gut bacteria include <em>Lactobacillus<\/em>, the bacteria commonly used in probiotic foods such as yogurt, and\u00a0<em>E. coli<\/em>\u00a0bacteria. About a third of all bacteria in the gut are members of the\u00a0<em>Bacteroides<\/em>\u00a0species.\u00a0<em>Bacteroides<\/em>\u00a0are key in helping us digest plant food.<\/p>\n<p id=\"x-ck12-OTIzMWRlZWM4NzhmZjVjYmMyYmM3NGZlMGJhMmVmYWE.-ltm\">It is estimated that 100 trillion bacteria live in the gut. This is more than the human cells that make up you. It has also been estimated that there are more bacteria in your mouth than people on the planet \u2014 there are over 7 billion people on the planet!<\/p>\n<p id=\"x-ck12-ODU2NDVkODc1YTM5N2M2OGJiNjdkMmRhM2I5MjdkYjM.-65g\">The bacteria in your digestive system are from anywhere between 300 and 1,000 species. As these bacteria are helpful, your body does not attack them. They actually appear to the body&#8217;s immune system as cells of the digestive system, not foreign invaders. The bacteria actually cover themselves with sugar molecules removed from the actual cells of the digestive system. This disguises the bacteria and protects them from the immune system.<\/p>\n<p id=\"x-ck12-ODc2Zjk5Y2ZkZmFkMDE4NWU3OGE3ZDFhZjNiMmQwNGU.-ecg\">As the bacteria that live in the human gut are beneficial to us, and as the bacteria enjoy a safe environment to live, the relationship that we have with these tiny organisms is described as mutualism, a type of symbiotic relationship.<\/p>\n<p id=\"x-ck12-ZTJkZmQ5OTExZjllODIwZmU5OGQwZmRhMDc5MjBkMWU.-5ie\">Lastly, keep in mind the small size of bacteria. Together, all the bacteria in your gut may weigh just about two pounds.<\/p>\n<h2>Control of the Digestive Process<\/h2>\n<p>The process of digestion is controlled by both hormones and nerves. Hormonal control is mainly by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5985\">endocrine<\/a> hormones secreted by cells in the lining of the stomach and small intestine. These hormones stimulate the production of digestive enzymes, bicarbonate, and bile. The hormone secretin, for example, is produced by endocrine cells lining the duodenum of the small intestine. Acidic chyme entering the duodenum from the stomach triggers the release of secretin into the bloodstream. When the secretin returns via the circulation to the digestive system, it signals the release of bicarbonate from the pancreas. The bicarbonate neutralizes the acidic chyme.\u00a0 See Table 15.3.2 for a summary of the major hormones governing the process of chemical digestion.<\/p>\n<table class=\"grid\" style=\"border-collapse: collapse; width: 100%; height: 239px;\">\n<caption>Table 15.3.2: Major Hormones Governing Chemical Digestion<\/caption>\n<tbody>\n<tr>\n<th scope=\"col\">Hormone<\/th>\n<th scope=\"col\">Source Organ<\/th>\n<th scope=\"col\">Target Organ<\/th>\n<th scope=\"col\">Trigger<\/th>\n<th scope=\"col\">Result<\/th>\n<\/tr>\n<tr>\n<th scope=\"row\">Gastrin<\/th>\n<td style=\"width: 17.0129%;\">Stomach walls<\/td>\n<td style=\"width: 16.1039%;\">Stomach<\/td>\n<td style=\"width: 23.8961%;\">High protein intake<\/td>\n<td style=\"width: 37.9925%;\">HCL and pepsin release, stomach churning<\/td>\n<\/tr>\n<tr>\n<th scope=\"row\">Secretin<\/th>\n<td style=\"width: 17.0129%;\">Duodenum<\/td>\n<td style=\"width: 16.1039%;\">Pancreas<\/p>\n<p>Gallbladder<\/td>\n<td style=\"width: 23.8961%;\">Acidic chyme entering the duodenum<\/td>\n<td style=\"width: 37.9925%;\">Release sodium bicarbonate, release bile<\/td>\n<\/tr>\n<tr>\n<th scope=\"row\">Cholecystokinin (CCK)<\/th>\n<td style=\"width: 17.0129%;\">Duodenum<\/td>\n<td style=\"width: 16.1039%;\">Pancreas<\/p>\n<p>Gallbladder<\/td>\n<td style=\"width: 23.8961%;\">Partially digested fat and protein in duodenum<\/td>\n<td style=\"width: 37.9925%;\">Release lipase, trypsin, release bile<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>Nerves involved in digestion include those that connect digestive organs to the\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5933\">central nervous system<\/a>, as well as nerves inside the walls of the digestive organs. Nerves connecting the digestive organs to the central nervous system cause smooth\u00a0muscles\u00a0in the walls of digestive organs to contract or relax as needed, depending on whether or not there is food to be digested. Nerves within digestive organs are stimulated when food enters the organs and stretches their walls. These nerves trigger the release of substances that\u00a0speed\u00a0up or slow down the movement of food through the GI tract and the secretion of digestive enzymes.<\/p>\n<div>\n<h1>Absorption<\/h1>\n<\/div>\n<p>When digestion is finished, it results in many simple nutrient molecules that must go through the process of\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4553\">absorption<\/a><\/strong>\u00a0from the lumen of the GI tract\u00a0to\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2702\">blood<\/a>\u00a0or <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4552\">lymph <\/a> vessels, so they can be transported to and used by cells throughout the body. A few substances are absorbed in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4558\">stomach<\/a> and\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4560\">large intestine<\/a>. Water is absorbed in both of these organs, and some minerals and vitamins are also absorbed in the large intestine, but about 95% of nutrient molecules are absorbed in the small intestine. Absorption of the majority of these molecules takes place in the second part of the small intestine, called the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4605\">jejunum<\/a>. There are, however, a few exceptions \u2014 for example, iron is absorbed in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4576\">duodenum<\/a>, and vitamin B12 is absorbed in the last part of the small intestine, called the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4606\">ileum<\/a>. After being absorbed in the small intestine, nutrient molecules are transported to other parts of the body for storage or further chemical modification. Amino acids, for instance, are transported to the liver to be used for protein synthesis.<\/p>\n<p>The epithelial tissue lining the small intestine is specialized for absorption. It is highly enfolded and is covered with <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4543\">villi<\/a> and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4583\">microvilli<\/a>, creating an enormous surface area for absorption. As shown in Figure 15.3.8, each villus also has a network of blood <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5923\">capillaries<\/a> and fine lymphatic vessels called <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4607\">lacteal<span style=\"font-size: 1em;\">s<\/span><span style=\"text-align: initial; font-size: 1em;\"><\/a><\/span><span style=\"text-align: initial; font-size: 1em;\">\u00a0close to its surface. The thin surface layer of epithelial cells of the villi transports nutrients from the lumen of the small intestine into these capillaries and lacteals. Blood in the capillaries absorbs most of the molecules, including simple sugars, amino acids, glycerol, salts, and water-soluble vitamins (vitamin C and the many B vitamins). Lymph in the lacteals absorbs fatty acids and fat-soluble vitamins (vitamins A, D, E, and K).<\/span><\/p>\n<figure id=\"attachment_4608\" aria-describedby=\"caption-attachment-4608\" style=\"width: 1024px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-4608\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Figure_34_01_11f-2.png\" alt=\"15.3.8\" width=\"1024\" height=\"484\" \/><figcaption id=\"caption-attachment-4608\" class=\"wp-caption-text\"><em>Figure 15.3.8 This simplified drawing of an intestinal villus shows the capillaries and lacteals within it that carry away absorbed substances. Note that each cell in the thin surface layer of the villus is actually covered with microvilli that greatly increase the surface area for absorption.<\/em><\/figcaption><\/figure>\n<p><span style=\"font-size: 1.602em; font-weight: bold;\">Feature: My Human Body<\/span><\/p>\n<p>The process of digestion does not always go as it should. Many people suffer from indigestion, or dyspepsia, a condition of impaired digestion. Symptoms may include upper abdominal fullness or pain, heartburn, nausea, belching, or some combination of these symptoms. The majority of cases of indigestion occur without evidence of an organic disease that is likely to explain the symptoms. Anxiety or certain foods or medications (such as aspirin) may be contributing factors in these cases. In other cases, indigestion is a symptom of an organic disease, most often gastroesophageal reflux disease (GERD) or gastritis. In a small minority of cases, indigestion is a symptom of a peptic ulcer of the stomach or duodenum, usually caused by a bacterial infection. Very rarely, indigestion is a sign of\u00a0cancer.<\/p>\n<p>An occasional bout of indigestion is usually nothing to worry about, especially in people less than 55 years of age. However, if you suffer frequent or chronic indigestion, it\u2019s a good idea to see a doctor. If an underlying disorder such as GERD or an ulcer is causing the indigestion, this can and should be treated. If no organic disease is discovered, the doctor can recommend lifestyle changes or treatments to help prevent or soothe the symptoms of acute indigestion. Lifestyle changes might include modifications in eating habits, such as eating more slowly, eating smaller meals, or avoiding fatty foods. You also might be advised to refrain from taking certain medications, especially on an empty stomach. The use of antacids or other medications to relieve symptoms may also be recommended.<\/p>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">15.3 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li>Digestion is a form of catabolism, in which food is broken down into small molecules that the body can absorb and use for\u00a0energy, growth, and repair. Digestion occurs when food moves through the gastrointestinal (GI) tract. The digestive process is controlled by both hormones and nerves.<\/li>\n<li>Mechanical digestion is a physical process in which food is broken into smaller pieces without becoming chemically changed. It occurs mainly in the mouth and stomach.<\/li>\n<li>Chemical digestion is a chemical process in which macromolecules \u2014 including carbohydrates, proteins, lipids, and nucleic acids \u2014 in food are changed into simple nutrient molecules that can be absorbed into body fluids. Carbohydrates are chemically digested to sugars, proteins to amino acids, lipids to fatty acids, and nucleic acids to individual nucleotides. Chemical digestion requires digestive enzymes. Gut flora carry out additional chemical digestion.<\/li>\n<li>Absorption occurs when the simple nutrient molecules that result from digestion are absorbed into\u00a0blood\u00a0or lymph.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">15.3 Review Questions<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>Define digestion. Where does it occur?<\/li>\n<li>\n<div id=\"h5p-621\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-621\" class=\"h5p-iframe\" data-content-id=\"621\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"15.3 Quiz\"><\/iframe><\/div>\n<\/div>\n<\/li>\n<li>Identify two organ systems that control the process of digestion by the digestive system.<\/li>\n<li>What is mechanical digestion? Where does it occur?<\/li>\n<li>Describe chemical digestion.<\/li>\n<li>What is the role of enzymes in chemical digestion?<\/li>\n<li>What is absorption? When does it occur?<\/li>\n<li>Where does most absorption occur in the digestive system?\u00a0Why does most of the absorption occur in this organ, and not earlier in the GI tract?<\/li>\n<\/ol>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">15.3 Explore More<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p><iframe loading=\"lazy\" id=\"oembed-1\" title=\"Food for thought: How your belly controls your brain | Ruairi Robertson | TEDxFulbrightSantaMonica\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/awtmTJW9ic8?feature=oembed&#38;rel=0&#38;rel=0\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/p>\n<p style=\"text-align: center;\">Food for thought: How your belly controls your brain | Ruairi Robertson | TEDxFulbrightSantaMonica, TEDx Talks, 2015.<\/p>\n<p><iframe loading=\"lazy\" id=\"oembed-2\" title=\"How the food you eat affects your gut - Shilpa Ravella\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/1sISguPDlhY?feature=oembed&#38;rel=0&#38;rel=0\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/p>\n<p style=\"text-align: center;\">How the food you eat affects your gut &#8211; Shilpa Ravella, TED-Ed, 2017.<\/p>\n<p><iframe loading=\"lazy\" id=\"oembed-3\" title=\"What causes heartburn? - Rusha Modi\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/jP-9AD0wMOk?feature=oembed&#38;rel=0&#38;rel=0\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/p>\n<p style=\"text-align: center;\">What causes heartburn? &#8211; Rusha Modi, TED-Ed, 2018.<\/p>\n<\/div>\n<\/div>\n<p>&nbsp;<\/p>\n<h2>Attributions<\/h2>\n<p><strong>Figure 15.3.1<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Patrick_Bertoletti_eating_hot_dogs.jpg\" rel=\"cc:attributionURL\">Patrick_Bertoletti_eating_hot_dogs<\/a> by Michael on Wikimedia Commons is used under a\u00a0<a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0) license.<\/p>\n<p><strong>Figure 15.3.2<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:2426_Mechanical_and_Chemical_DigestionN.jpg\" rel=\"cc:attributionURL\">2426_Mechanical_and_Chemical_DigestionN<\/a>\u00a0by <a href=\"https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/23-7-chemical-digestion-and-absorption-a-closer-look\">OpenStax College<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/3.0) license.<\/p>\n<p><strong>Figure 15.3.3<\/strong><\/p>\n<p><a href=\"https:\/\/unsplash.com\/photos\/-9BF6fBTnYA\" rel=\"cc:attributionURL\">Eating tacos<\/a> [photo] by <a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@byrdman85\">DeMorris Byrd<\/a> on <a href=\"http:\/\/unsplash.com\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/p>\n<p><strong>Figure 15.3.4<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/nutritionaldoublethink\/26293621276\" rel=\"cc:attributionURL\">Carbohydrate digestion<\/a> by <a class=\"owner-name truncate\" title=\"Go to Nutritional Doublethink's photostream\" href=\"https:\/\/www.flickr.com\/photos\/nutritionaldoublethink\/\" data-track=\"attributionNameClick\">Nutritional Doublethink<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/2.0\/\">CC BY-SA 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-sa\/2.0\/) license.<\/p>\n<p><strong>Figure 15.3.5<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/140675010@N07\/26273143671\" rel=\"cc:attributionURL\">Peptide Digestion<\/a> by <a class=\"owner-name truncate\" title=\"Go to Nutritional Doublethink's photostream\" href=\"https:\/\/www.flickr.com\/photos\/nutritionaldoublethink\/\" data-track=\"attributionNameClick\">Nutritional Doublethink<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.<\/p>\n<p><strong>Figure 15.3.6<\/strong><\/p>\n<p><a href=\"https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/17.3\/\"><span style=\"font-size: 1em;\">Bile from the liver and lipase from the pancreas help digest lipids in small intestine<\/span><\/a> by <a href=\"https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/17.3\/\">CK-12 Foundation<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\">CC BY NC 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.<\/p>\n<div><img decoding=\"async\" src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/logo_ck12.png\" alt=\"\" \/> <span style=\"font-size: 1em;\">\u00a9<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/\">CK-12 Foundation<\/a> <span style=\"font-size: 1em;\">Licensed under\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\"><img decoding=\"async\" class=\"alignnone size-full wp-image-8217\" title=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/icon_licence.png\" alt=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" \/><\/a><span style=\"font-size: 1em;\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/about\/terms-of-use\/?_ga=2.129918412.1988667202.1598996862-1392032960.1592870652\">Terms of Use<\/a><span style=\"font-size: 1em;\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/about\/attribution\/\">Attribution<\/a><\/div>\n<p><strong>Figure 15.3.7<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/nihgov\/39825990953\" rel=\"cc:attributionURL\">Gut Flora by NIH Image Gallery on Flickr<\/a> by <a class=\"owner-name truncate no-outline\" title=\"Go to NIH Image Gallery's photostream\" href=\"https:\/\/www.flickr.com\/photos\/nihgov\/\" data-track=\"attributionNameClick\">NIH Image Gallery<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/2.0\/\">CC BY-NC-SA 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc-sa\/2.0\/) license.<\/p>\n<p><strong>Figure 15.3.8<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Figure_34_01_11f.png\" rel=\"cc:attributionURL\">Figure_34_01_11f<\/a> by <a href=\"https:\/\/cnx.org\/contents\/GFy_h8cu@10.53:Oestf0YE@6\/Digestive-Systems\">CNX OpenStax<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">CC BY 4.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/4.0) license.<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\"><span class=\"os-title-label\">Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure\u00a0<\/span><span class=\"os-number\">23.28<\/span><span class=\"os-divider\">\u00a0<\/span><span id=\"3621\" class=\"os-title\" data-type=\"title\">Digestion and absorption [digital image].\u00a0 In <em>Anatomy and Physiology<\/em> (Section 23.7). OpenStax. <\/span>https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/23-7-chemical-digestion-and-absorption-a-closer-look<\/p>\n<p class=\"hanging-indent\">Brainard, J\/ CK-12 Foundation. (2016). Figure 6 Both bile from the liver and lipase from the pancreas help digest lipids in the small intestine [digital image]. In <em>CK-12 College Human Biology<\/em> (Section 17.3) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/17.3\/<\/p>\n<p class=\"hanging-indent\">OpenStax. (2016, May 27) Figure 11 Villi are folds on the small intestine lining that increase the surface area to facilitate the absorption of nutrients. [digital image]. In <em>OpenStax, Biology<\/em> (Section 34.1). OpenStax CNX.\u00a0 https:\/\/cnx.org\/contents\/GFy_h8cu@10.53:Oestf0YE@6\/Digestive-Systems<\/p>\n<p class=\"hanging-indent\">TED-Ed. (2017, March 23). How the food you eat affects your gut &#8211; Shilpa Ravella. YouTube. https:\/\/www.youtube.com\/watch?v=1sISguPDlhY&amp;feature=youtu.be<\/p>\n<p class=\"title style-scope ytd-video-primary-info-renderer hanging-indent\">TED-Ed. (2018, November 1). What causes heartburn? &#8211; Rusha Modi. YouTube. https:\/\/www.youtube.com\/watch?v=jP-9AD0wMOk&amp;feature=youtu.be<\/p>\n<p class=\"title style-scope ytd-video-primary-info-renderer hanging-indent\">TEDx Talks. (2015, December 7). Food for thought: How your belly controls your brain | Ruairi Robertson | TEDxFulbrightSantaMonica. YouTube. https:\/\/www.youtube.com\/watch?v=awtmTJW9ic8&amp;feature=youtu.be<\/p>\n<p>&nbsp;<\/p>\n<div class=\"glossary\"><span class=\"screen-reader-text\" id=\"definition\">definition<\/span><template id=\"term_5162_4549\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4549\"><div tabindex=\"-1\"><p>&nbsp;<\/p>\n<figure id=\"attachment_2380\" aria-describedby=\"caption-attachment-2380\" style=\"width: 400px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2380\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/11027734365_3b6c9ec284_o-scaled-3.jpg\" alt=\"\" width=\"400\" height=\"264\" \/><figcaption id=\"caption-attachment-2380\" class=\"wp-caption-text\"><em>Figure 5.8.1 Teenage Mutant Ninja Turtles Cosplay: Raphael and Michelangelo. <\/em><\/figcaption><\/figure>\n<p><span style=\"font-size: 1.602em; font-weight: bold;\">Mutant Cosplay<\/span><\/p>\n<p>You probably recognize these costumed comic fans in Figure 5.8.1 as two of the four Teenage Mutant Ninja Turtles. Can a mutation really turn a reptile into an anthropomorphic superhero? Of course not \u2014 but mutations <em>can<\/em> often result in other drastic (but more realistic) changes in living things.<\/p>\n<div>\n<h1>What Are Mutations?<\/h1>\n<\/div>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">Mutations<\/a><\/strong>\u00a0are random changes in the sequence of bases in\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_277\">DNA<\/a>\u00a0or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_519\">RNA<\/a>. The word\u00a0<em>mutation<\/em>\u00a0may make you think of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Teenage_Mutant_Ninja_Turtles\">Ninja\u00a0Turtles<\/a>, but that's a misrepresentation of how most mutations work. First of all,\u00a0<em>everyone<\/em>\u00a0has mutations. In fact, most people have dozens (or even hundreds!) of mutations in their\u00a0DNA. Secondly, from an evolutionary perspective, mutations are essential. They are needed for evolution to occur because they are the ultimate source of all new\u00a0genetic variation\u00a0in any\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5815\">species<\/a>.<\/p>\n<div>\n<h1>Causes of Mutations<\/h1>\n<\/div>\n<p>Mutations have many possible causes. Some mutations seem to happen spontaneously, without any outside influence. They occur when errors are made during\u00a0DNA\u00a0replication or during the\u00a0transcription\u00a0phase of\u00a0protein synthesis. Other mutations are caused by environmental factors. Anything in\u00a0the environment\u00a0that can cause a mutation is known as a\u00a0<strong>mutagen<\/strong>. Examples of mutagens are shown in the figure\u00a0below.<\/p>\n<figure id=\"attachment_2383\" aria-describedby=\"caption-attachment-2383\" style=\"width: 899px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2383\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Mutagens-2.png\" alt=\"Examples of Radiation, chemicals and infectious agents: An mage of a sun icon and hand x-ray for UV and x-ray radiation; a picture of hands holding a cigarrette and a vape, 3 smokies on a grill (nitrates\/ nitrites and mutagenic BBQ chemicals) and a stylized image of a woman in a green acne face mask with benzoyl peroxide to represent chemicals. To represent infectious agents: an orange spherical virus as human papillomavirus (HPV) and a purple spirilla bacterium with flagella for Helicobacter Pylori - a bacteria spread through contaminated food.\" width=\"899\" height=\"697\" \/><figcaption id=\"caption-attachment-2383\" class=\"wp-caption-text\"><em>Figure 5.8.2 Examples of Mutagens. Types of mutagens include radiation, chemicals, and infectious agents. Do you know of other examples of each type of mutagen shown here?<\/em><\/figcaption><\/figure>\n<div>\n<p>&nbsp;<\/p>\n<\/div>\n<p><span style=\"font-size: 1.602em; font-weight: bold;\">Types of Mutations<\/span><\/p>\n<p>Mutations come in a variety of types. Two major categories of mutations are germline mutations and somatic mutations.<\/p>\n<ul>\n<li><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5575\">Germline mutations<\/a> <\/strong>occur in gametes (the sex cells), such as eggs and\u00a0sperm. These mutations are especially significant because they can be transmitted to offspring, causing every cell in the offspring\u00a0to\u00a0carry\u00a0those\u00a0mutations.<\/li>\n<li><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5639\">Somatic mutations<\/a> <\/strong>occur in other\u00a0cells\u00a0of the body. These mutations may have little effect on the organism, because they are confined to just one cell and its daughter cells. Somatic mutations cannot be passed on to offspring.<\/li>\n<\/ul>\n<p>Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome, or they may alter just one or a few nucleotides.<\/p>\n<h2>Chromosomal Alterations<\/h2>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2388\">Chromosomal alterations<\/a><\/strong>\u00a0are mutations that change chromosome structure. They occur when a section of a chromosome breaks off and rejoins incorrectly, or otherwise does not rejoin at all. Possible ways in which these mutations can occur are illustrated in the figure\u00a0below.\u00a0Chromosomal alterations are very serious. They often result in the death of the organism in which they occur. If the organism survives, it may be affected in multiple ways. An example of a human disease caused by a chromosomal duplication is <a href=\"https:\/\/en.wikipedia.org\/wiki\/Charcot%E2%80%93Marie%E2%80%93Tooth_disease\">Charcot-Marie-Tooth disease type 1 (CMT1)<\/a>.\u00a0It is characterized by muscle weakness,\u00a0as well as\u00a0loss of muscle tissue and sensation. The most common cause of CMT1 is a duplication\u00a0of\u00a0part of\u00a0chromosome 17.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2387\" aria-describedby=\"caption-attachment-2387\" style=\"width: 434px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2387 size-full\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Chromosomenmutationen-2.png\" alt=\"\" width=\"434\" height=\"487\" \/><figcaption id=\"caption-attachment-2387\" class=\"wp-caption-text\"><em>Figure 5.8.3 Chromosomal alterations are major changes in the genetic material.<\/em><\/figcaption><\/figure>\n<div>\n<p><span style=\"font-size: 1.424em; font-weight: bold;\">Point Mutations<\/span><\/p>\n<\/div>\n<p>A\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2389\">point mutation<\/a><\/strong> is a change in a single nucleotide in DNA. This type of mutation is usually less serious than a chromosomal alteration. An example of a point mutation is a mutation that changes the codon UUU to the codon UCU. Point mutations can be silent, missense, or nonsense mutations, as described in Table 5.8.1. The effects of point mutations depend on how they change the genetic code.<\/p>\n<table style=\"height: 101px; width: 100%;\">\n<caption>Table 5.8.1: The Effects of Point Mutations<\/caption>\n<thead>\n<tr style=\"height: 14px;\">\n<th scope=\"col\">Type<\/th>\n<th scope=\"col\">Description<\/th>\n<th scope=\"col\">Example<\/th>\n<th scope=\"col\">Effect<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr style=\"height: 29px;\">\n<td>Silent<\/td>\n<td>mutated codon codes for the same <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5707\">amino\u00a0acid<\/a><\/td>\n<td>CAA (glutamine) \u2192 CAG (glutamine)<\/td>\n<td>none<\/td>\n<\/tr>\n<tr style=\"height: 29px;\">\n<td>Missense<\/td>\n<td>mutated codon codes for a different amino\u00a0acid<\/td>\n<td>CAA (glutamine) \u2192 CCA (proline)<\/td>\n<td>variable<\/td>\n<\/tr>\n<tr style=\"height: 29px;\">\n<td>Nonsense<\/td>\n<td>mutated codon is a premature stop codon<\/td>\n<td>CAA (glutamine) \u2192 UAA (stop) usually<\/td>\n<td>serious<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<h2>Frameshift Mutations<\/h2>\n<p>A\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_6019\">frameshift mutation<\/a><\/strong>\u00a0is a deletion or insertion of one or more nucleotides, changing the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5555\">reading frame<\/a> of the\u00a0base\u00a0sequence. Deletions remove nucleotides, and insertions add nucleotides. Consider the following sequence of bases in\u00a0RNA:<\/p>\n<p><strong>AUG-AAU-ACG-GCU = start-asparagine-threonine-alanine<\/strong><\/p>\n<p>Now, assume that an insertion occurs in this sequence. Let\u2019s say an\u00a0<strong>A <\/strong>nucleotide is inserted after the start codon\u00a0<strong>AUG.<\/strong>\u00a0The sequence of bases becomes:<\/p>\n<p><strong>AUG-AA<span style=\"color: #800000; background-color: #ffff99;\">A<\/span>-UAC-GGC-U = start-lysine-tyrosine-glycine<\/strong><\/p>\n<p>Even though the rest of the sequence is unchanged, this insertion changes the reading frame and, therefore, all of the codons that follow it. As this example shows, a frameshift mutation can dramatically change how the codons in mRNA are read. This can have a drastic effect on the\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5813\">protein<\/a>\u00a0product.<\/p>\n<div>\n<h1>Effects of Mutations<\/h1>\n<\/div>\n<p>The majority of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutations<\/a>\u00a0have neither negative nor positive effects on the organism in which they occur. These mutations are called neutral mutations. Examples include silent point mutations, which are neutral because they do not change the\u00a0amino acids\u00a0in the\u00a0proteins\u00a0they encode.<\/p>\n<p>Many other mutations have no effects on the organism because they are repaired before\u00a0protein synthesis\u00a0occurs.\u00a0Cells\u00a0have multiple repair mechanisms to fix mutations in DNA.<\/p>\n<h2>Beneficial Mutations<\/h2>\n<p>Some mutations \u2014 known as\u00a0<strong>beneficial mutations<\/strong>\u00a0\u2014\u00a0have a positive effect on the organism in which they occur. They generally code for new versions of\u00a0proteins\u00a0that help organisms adapt to their environment. If they increase an organism\u2019s chances of surviving or reproducing, the mutations are likely to become more common over time. There are several well-known examples of beneficial mutations. Here are two such examples:<\/p>\n<ol>\n<li>Mutations have occurred in\u00a0bacteria\u00a0that allow the bacteria to survive in the presence of antibiotic drugs, leading to the evolution of antibiotic-resistant strains of bacteria.<\/li>\n<li>A unique mutation is found in people in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Limone_sul_Garda\">Limone<\/a>,\u00a0 a small town in Italy. The mutation protects them from developing atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels despite a high-fat diet. The individual in which this mutation first appeared has even been identified and many of his descendants carry this gene.<\/li>\n<\/ol>\n<h2>Harmful Mutations<\/h2>\n<p>Imagine making a random change in a complicated\u00a0machine, such as a car engine.\u00a0There is a chance that the random change would result in a car that does not run well \u2014 or perhaps does not run at all. By the same token, a random change in a gene's DNA may result in the production of a\u00a0protein\u00a0that does not function normally... or may not function at all.\u00a0Such mutations are likely to be harmful.\u00a0<strong>Harmful mutations<\/strong>\u00a0may cause\u00a0genetic disorders\u00a0or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5605\">cancer<\/a>.<\/p>\n<ul>\n<li>A <strong>genetic disorder<\/strong> is a disease, syndrome, or other abnormal condition caused by a mutation in one or more genes, or by a chromosomal alteration. An example of a genetic disorder is <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cystic_fibrosis\">cystic fibrosis<\/a>. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in digestive organs.<\/li>\n<li><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5605\">Cancer<\/a> <\/strong>is a disease in which\u00a0cells\u00a0grow out of control and form abnormal masses of cells (called tumors). It is generally caused by mutations in genes that regulate the\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5643\">cell cycle<\/a>. Because of the mutations, cells with damaged <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_277\">DNA<\/a> are allowed to divide without restriction.<\/li>\n<\/ul>\n<div>\n<h1>Feature: My\u00a0Human Body<\/h1>\n<\/div>\n<p>Inherited mutations are thought to play a role in roughly five to ten per cent of all cancers. Specific mutations that cause many of the known hereditary cancers have been identified. Most of the mutations occur in genes that control the growth of cells or the repair of damaged DNA.<\/p>\n<p>Genetic testing can be done to determine whether individuals have inherited specific cancer-causing mutations. Some of the most common inherited cancers for which genetic testing is available include hereditary <a href=\"https:\/\/en.wikipedia.org\/wiki\/Breast_cancer\">breast<\/a> and <a href=\"https:\/\/en.wikipedia.org\/wiki\/Ovarian_cancer\">ovarian\u00a0cancer<\/a>, caused by mutations in genes\u00a0called\u00a0<a href=\"https:\/\/en.wikipedia.org\/wiki\/BRCA_mutation\">BRCA1 and BRCA2<\/a>. Besides breast and ovarian cancers, mutations in these genes may also cause pancreatic and prostate cancers.\u00a0Genetic testing is generally done on a small sample of body fluid or tissue, such as\u00a0blood, saliva, or skin cells. The sample is analyzed by a lab that specializes in genetic testing, and it usually takes at least a few weeks to get the test results.<\/p>\n<p>Should you get genetic testing to find out whether you have inherited a cancer-causing mutation? Such testing is not done routinely just to screen patients for risk of cancer. Instead, the tests are generally done only when the following three criteria are met:<\/p>\n<ol>\n<li>The test can determine definitively whether a specific gene mutation is present. This is the case with the BRCA1 and BRCA2 gene mutations, for example.<\/li>\n<li>The test results would be useful to help guide future medical care. For example, if you found out you had a mutation in the BRCA1 or BRCA2 gene, you might get more frequent breast and ovarian cancer screenings than are generally recommended.<\/li>\n<li>You have a personal or family history that suggests you are at risk of an inherited cancer.<\/li>\n<\/ol>\n<p>Criterion number 3 is based, in turn, on such factors as:<\/p>\n<ul>\n<li>Diagnosis of cancer at an unusually young age.<\/li>\n<li>Several different cancers occurring independently in the same individual.<\/li>\n<li>Several close genetic relatives having the same type of cancer (such as a maternal grandmother, mother, and sister all having breast cancer).<\/li>\n<li>Cancer occurring in both organs in a set of paired organs (such as both kidneys or both breasts).<\/li>\n<\/ul>\n<p>If you meet the criteria for genetic testing and are advised to undergo it, genetic counseling is highly recommended. A genetic counselor can help you understand what the results mean and how to make use of them to reduce your risk of developing cancer. For example, a positive test result that shows the presence of a mutation may not\u00a0<em>necessarily<\/em>\u00a0mean that you will develop cancer. It may depend on whether the gene is located on an autosome or sex chromosome, and whether the mutation is dominant or recessive. Lifestyle factors may also play a role in cancer risk even for hereditary cancers. Early detection can often be life saving if cancer does develop. Genetic counseling can also help you assess the chances that any children you may have will inherit the mutation.<\/p>\n<div>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.8 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">Mutations<\/a> are random changes in the sequence of bases in <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_277\">DNA<\/a> or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_519\">RNA<\/a>. Most people have multiple mutations in their DNA without ill effects. Mutations are the ultimate source of all new\u00a0genetic variation\u00a0in any\u00a0species.<\/li>\n<li>Mutations may happen spontaneously during <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5559\">DNA replication<\/a> or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2241\">transcription<\/a>. Other mutations are caused by environmental factors called mutagens. Mutagens include radiation, certain chemicals, and some infectious agents.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5575\">Germline mutations<\/a> occur in gametes and may be passed onto offspring. Every cell in the offspring will then have the mutation. <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5639\">Somatic mutations<\/a> occur in cells other than gametes and are confined to just one cell and its daughter cells. These mutations cannot be passed on to offspring.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2388\">Chromosomal alterations<\/a> are mutations that change chromosome structure and usually affect the organism in multiple ways.\u00a0Charcot-Marie-Tooth disease type 1\u00a0is an example of a chromosomal alteration in humans.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2389\">Point mutations<\/a> are changes in a single nucleotide. The effects of point mutations depend on how they change the\u00a0genetic code\u00a0and may range from no effects to very serious effects.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2392\">Frameshift mutations<\/a> change the reading frame of the\u00a0genetic code\u00a0and are likely to have a drastic effect on the encoded\u00a0protein.<\/li>\n<li>Many mutations are neutral and have no effect on the organism in which they occur. Some mutations are beneficial and improve fitness. An example is a mutation that confers antibiotic\u00a0resistance\u00a0in\u00a0bacteria. Other mutations are harmful and decrease fitness, such as the mutations that cause\u00a0genetic disorders\u00a0or <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5605\">cancers<\/a>.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.8 Review Question<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>Define mutation.<\/li>\n<li>Identify causes of mutation.<\/li>\n<li>Compare and contrast germline and somatic mutations.<\/li>\n<li>Describe chromosomal alterations, point mutations, and frameshift mutations. Identify the potential effects of each type of mutation.<\/li>\n<li>Why\u00a0do many mutations have neutral effects?<\/li>\n<li>Give one\u00a0example of a beneficial mutation and one\u00a0example of a harmful mutation.<\/li>\n<li>\n<div id=\"h5p-502\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-502\" class=\"h5p-iframe\" data-content-id=\"502\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Mutations\"><\/iframe><\/div>\n<\/div>\n<\/li>\n<li>Why do you think that exposure to mutagens (such as cigarette smoke) can cause cancer?<\/li>\n<li>Explain why the insertion or deletion of a single nucleotide can cause a frameshift mutation.<\/li>\n<li>Compare and contrast missense and nonsense mutations.<\/li>\n<li>Explain why mutations are important to\u00a0evolution.<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.8 Explore More<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?time_continue=51&amp;v=PQjL4ZDuq2o&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center;\">How Radiation Changes Your DNA, Seeker, 2016.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=z9HIYjRRaDE&amp;t=93s<\/p>\n<p style=\"text-align: center;\">Where do genes come from? - Carl Zimmer, TED-Ed, 2014.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=a63t8r70QN0&amp;feature=youtu.be<\/p>\n<p style=\"text-align: center;\">What you should know about vaping and e-cigarettes | Suchitra Krishnan-Sarin,<br \/>\nTED, 2019.<\/p>\n<\/div>\n<\/div>\n<h2>Attributions<\/h2>\n<p><strong>Figure 5.8.1<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/patloika\/11027734365\/in\/photostream\/\" rel=\"cc:attributionURL\">Ninja Turtles<\/a>\u00a0by\u00a0<a href=\"https:\/\/www.flickr.com\/photos\/patloika\/\" rel=\"dc:creator\">Pat Loika<\/a> on <a href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\">CC BY 2.0 <\/a>(https:\/\/creativecommons.org\/licenses\/by\/2.0\/<a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">)<\/a> license.<\/p>\n<p><strong>Figure 5.8.2<\/strong><\/p>\n<div>Examples of Mutagens by Christine MIller is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/4.0\/\">CC BY SA 4.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-sa\/4.0\/) license.<br \/>\nSeparate images are all in public domain or CC licensed:<\/div>\n<ul>\n<li><a style=\"font-size: 1em;\" href=\"https:\/\/pixabay.com\/illustrations\/beauty-treatment-face-mask-girl-163540\/\">Beauty treatment face mask<\/a><span style=\"font-size: 1em;\"> by <\/span><a style=\"font-size: 1em;\" href=\"https:\/\/pixabay.com\/users\/no-longer-here-19203\/\">no-longer-here<\/a><span style=\"font-size: 1em;\"> on <\/span><a style=\"font-size: 1em;\" href=\"https:\/\/pixabay.com\/\">Pixabay<\/a><span style=\"font-size: 1em;\"> is used under the <\/span><a style=\"font-size: 1em;\" href=\"https:\/\/pixabay.com\/service\/license\/\">Pixabay License<\/a><span style=\"font-size: 1em;\"> (https:\/\/pixabay.com\/service\/license\/).<\/span><\/li>\n<li><a href=\"https:\/\/www.flickr.com\/photos\/ajc1\/277161177\">HPV<\/a> by <a class=\"owner-name truncate\" title=\"Go to AJC1's photostream\" href=\"https:\/\/www.flickr.com\/photos\/ajc1\/\" data-track=\"attributionNameClick\">AJC1<\/a> on <a href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a\u00a0<a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/\">CC BY-NC 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/) license.<\/li>\n<li><span style=\"background-color: #ffffff;\"><a style=\"background-color: #ffffff;\" href=\"https:\/\/www.flickr.com\/search\/?user_id=47353092%40N00&amp;view_all=1&amp;text=bacteria\">H Pylori<\/a> by <a class=\"owner-name truncate\" style=\"background-color: #ffffff;\" title=\"Go to AJC1's photostream\" href=\"https:\/\/www.flickr.com\/photos\/ajc1\/\" data-track=\"attributionNameClick\">AJC1<\/a> on <a style=\"background-color: #ffffff;\" href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a <a style=\"background-color: #ffffff;\" href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/\">CC BY-NC 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/) license.\u00a0<\/span><\/li>\n<li><span style=\"font-size: 1em;\"><a href=\"https:\/\/www.flickr.com\/photos\/vaping360\/18539459466\">Vape and Cigarette<\/a> by <a class=\"owner-name truncate\" title=\"Go to Vaping360's photostream\" href=\"https:\/\/www.flickr.com\/photos\/vaping360\/\" data-track=\"attributionNameClick\">Vaping360<\/a><\/span> on <a href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.<\/li>\n<li><span style=\"font-size: 1em;\"><a href=\"https:\/\/commons.wikimedia.org\/w\/index.php?curid=12143891\">Hand X-Ray<\/a> by<\/span> <a title=\"User:Hellerhoff\" href=\"https:\/\/commons.wikimedia.org\/wiki\/User:Hellerhoff\">Hellerhoff<\/a> on Wikimedia Commons - <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en\">CC BY-SA 3.0 <\/a>(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.<\/li>\n<li><a href=\"https:\/\/www.pxfuel.com\/en\/free-photo-obmsy\"><span style=\"font-size: 1em;\">Hot dogs<\/span><\/a><span style=\"font-size: 1em;\"> by unknown on <a href=\"https:\/\/www.pxfuel.com\/\">PxFuel<\/a> is used under the <a href=\"https:\/\/www.pxfuel.com\/terms-of-use\">Pxfuel Terms <\/a>(https:\/\/www.pxfuel.com\/terms-of-use).<\/span><\/li>\n<li>Sunshine face is clipart.<\/li>\n<\/ul>\n<p><strong>Figure 5.8.3<\/strong><\/p>\n<p><span style=\"text-align: initial; font-size: 1em; color: #373d3f;\">Scheme of possible chromosome mutations\/ <a href=\"https:\/\/commons.wikimedia.org\/w\/index.php?curid=1413589\">Chromosomenmutationen<\/a> by unknown on Wikimedia Commons is adapted from N<\/span><span style=\"color: #373d3f; font-size: 1em;\">IH<\/span><span style=\"text-align: initial; font-size: 1em; color: #373d3f;\">'s <a href=\"https:\/\/www.genome.gov\/genetics-glossary\/Mutation\">Talking Glossary of Genetics<\/a>. [Changes as described by <a href=\"https:\/\/de.wikipedia.org\/wiki\/Benutzer:Dietzel65\">de:user:Dietzel65<\/a>]. Further use and adapation (text translated to English) by\u00a0<\/span><span style=\"text-align: initial; font-size: 1em; color: #373d3f;\">Christine Miller as image is in the <a style=\"text-align: initial; font-size: 1em;\" href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><span style=\"font-size: 1.424em; font-weight: bold;\">References<\/span><\/p>\n<p class=\"hanging-indent\">Seeker. (2016, April 23). How radiation changes your DNA. YouTube. https:\/\/www.youtube.com\/watch?v=PQjL4ZDuq2o&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED. (2019, June 5). What you should know about vaping and e-cigarettes | Suchitra Krishnan-Sarin. YouTube. https:\/\/www.youtube.com\/watch?v=a63t8r70QN0&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED-Ed. (2014, September 22). Where do genes come from? - Carl Zimmer. YouTube. https:\/\/www.youtube.com\/watch?v=z9HIYjRRaDE&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 6). Breast cancer. In Wikipedia.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Breast_cancer&amp;oldid=966366739<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 9). Charcot\u2013Marie\u2013Tooth disease. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Charcot%E2%80%93Marie%E2%80%93Tooth_disease&amp;oldid=966912915<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 7). Cystic fibrosis. In <em>Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Cystic_fibrosis&amp;oldid=966566921<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, June 4). Limone sul Garda. In\u00a0<i>Wikipedia. <\/i>https:\/\/en.wikipedia.org\/w\/index.php?title=Limone_sul_Garda&amp;oldid=960771991<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, June 23). Ovarian cancer. In <em>Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Ovarian_cancer&amp;oldid=964157192<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, May 7). BRCA mutation. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=BRCA_mutation&amp;oldid=955463902<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 10). Teenage Mutant Ninja Turtles. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Teenage_Mutant_Ninja_Turtles&amp;oldid=967030468<\/p>\n<p>&nbsp;<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5721\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5721\"><div tabindex=\"-1\"><p>The breakdown of larger molecules into smaller ones.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4297\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4297\"><div tabindex=\"-1\"><p>A chameleon on a branch, surrounded by foliage.  The chameleon is camouflaged to blend into its surroundings.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4559\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4559\"><div tabindex=\"-1\"><p>Image shows a Lego (TM) representation of Gregor Mendel with his plants.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4550\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4550\"><div tabindex=\"-1\"><p>Created by: CK-12\/Adapted by Christine Miller<\/p>\n<figure id=\"attachment_2380\" aria-describedby=\"caption-attachment-2380\" style=\"width: 400px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2380\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/11027734365_3b6c9ec284_o-scaled-3.jpg\" alt=\"\" width=\"400\" height=\"264\"><figcaption id=\"caption-attachment-2380\" class=\"wp-caption-text\"><em>Figure 5.8.1 Teenage Mutant Ninja Turtles Cosplay: Raphael and Michelangelo. <\/em><\/figcaption><\/figure>\n<p><span style=\"font-size: 1.602em;font-weight: bold\">Mutant Cosplay<\/span><\/p>\n<p>You probably recognize these costumed comic fans in Figure 5.8.1 as two of the four Teenage Mutant Ninja Turtles. Can a mutation really turn a reptile into an anthropomorphic superhero? Of course not \u2014 but mutations <em>can<\/em> often result in other drastic (but more realistic) changes in living things.<\/p>\n<div>\n<h1>What Are Mutations?<\/h1>\n<\/div>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">Mutations<\/a><\/strong>\u00a0are random changes in the sequence of bases in\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_277\">DNA<\/a>\u00a0or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_519\">RNA<\/a>. The word\u00a0<em>mutation<\/em>\u00a0may make you think of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Teenage_Mutant_Ninja_Turtles\">Ninja\u00a0Turtles<\/a>, but that's a misrepresentation of how most mutations work. First of all,\u00a0<em>everyone<\/em>\u00a0has mutations. In fact, most people have dozens (or even hundreds!) of mutations in their\u00a0DNA. Secondly, from an evolutionary perspective, mutations are essential. They are needed for evolution to occur because they are the ultimate source of all new\u00a0genetic variation\u00a0in any\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_183\">species<\/a>.<\/p>\n<div>\n<h1>Causes of Mutations<\/h1>\n<\/div>\n<p>Mutations have many possible causes. Some mutations seem to happen spontaneously, without any outside influence. They occur when errors are made during\u00a0DNA\u00a0replication or during the\u00a0transcription\u00a0phase of\u00a0protein synthesis. Other mutations are caused by environmental factors. Anything in\u00a0the environment\u00a0that can cause a mutation is known as a\u00a0<strong>mutagen<\/strong>. Examples of mutagens are shown in the figure\u00a0below.<\/p>\n<figure id=\"attachment_2383\" aria-describedby=\"caption-attachment-2383\" style=\"width: 899px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2383\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Mutagens-2.png\" alt=\"Examples of Radiation, chemicals and infectious agents: An mage of a sun icon and hand x-ray for UV and x-ray radiation; a picture of hands holding a cigarrette and a vape, 3 smokies on a grill (nitrates\/ nitrites and mutagenic BBQ chemicals) and a stylized image of a woman in a green acne face mask with benzoyl peroxide to represent chemicals. To represent infectious agents: an orange spherical virus as human papillomavirus (HPV) and a purple spirilla bacterium with flagella for Helicobacter Pylori - a bacteria spread through contaminated food.\" width=\"899\" height=\"697\"><figcaption id=\"caption-attachment-2383\" class=\"wp-caption-text\"><em>Figure 5.8.2 Examples of Mutagens. Types of mutagens include radiation, chemicals, and infectious agents. Do you know of other examples of each type of mutagen shown here?<\/em><\/figcaption><\/figure>\n<div>\n<p>&nbsp;<\/p>\n<\/div>\n<p><span style=\"font-size: 1.602em;font-weight: bold\">Types of Mutations<\/span><\/p>\n<p>Mutations come in a variety of types. Two major categories of mutations are germline mutations and somatic mutations.<\/p>\n<ul>\n<li><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2384\">Germline mutations<\/a> <\/strong>occur in gametes (the sex cells), such as eggs and\u00a0sperm. These mutations are especially significant because they can be transmitted to offspring, causing every cell in the offspring\u00a0to\u00a0carry\u00a0those\u00a0mutations.<\/li>\n<li><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2385\">Somatic mutations<\/a> <\/strong>occur in other\u00a0cells\u00a0of the body. These mutations may have little effect on the organism, because they are confined to just one cell and its daughter cells. Somatic mutations cannot be passed on to offspring.<\/li>\n<\/ul>\n<p>Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome, or they may alter just one or a few nucleotides.<\/p>\n<h2>Chromosomal Alterations<\/h2>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2388\">Chromosomal alterations<\/a><\/strong>\u00a0are mutations that change chromosome structure. They occur when a section of a chromosome breaks off and rejoins incorrectly, or otherwise does not rejoin at all. Possible ways in which these mutations can occur are illustrated in the figure\u00a0below.\u00a0Chromosomal alterations are very serious. They often result in the death of the organism in which they occur. If the organism survives, it may be affected in multiple ways. An example of a human disease caused by a chromosomal duplication is <a href=\"https:\/\/en.wikipedia.org\/wiki\/Charcot%E2%80%93Marie%E2%80%93Tooth_disease\">Charcot-Marie-Tooth disease type 1 (CMT1)<\/a>.\u00a0It is characterized by muscle weakness,\u00a0as well as\u00a0loss of muscle tissue and sensation. The most common cause of CMT1 is a duplication\u00a0of\u00a0part of\u00a0chromosome 17.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2387\" aria-describedby=\"caption-attachment-2387\" style=\"width: 434px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2387 size-full\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Chromosomenmutationen-2.png\" alt=\"\" width=\"434\" height=\"487\"><figcaption id=\"caption-attachment-2387\" class=\"wp-caption-text\"><em>Figure 5.8.3 Chromosomal alterations are major changes in the genetic material.<\/em><\/figcaption><\/figure>\n<div>\n<p><span style=\"font-size: 1.424em;font-weight: bold\">Point Mutations<\/span><\/p>\n<\/div>\n<p>A\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2389\">point mutation<\/a><\/strong> is a change in a single nucleotide in DNA. This type of mutation is usually less serious than a chromosomal alteration. An example of a point mutation is a mutation that changes the codon UUU to the codon UCU. Point mutations can be silent, missense, or nonsense mutations, as described in Table 5.8.1. The effects of point mutations depend on how they change the genetic code.<\/p>\n<table style=\"height: 101px;width: 100%\">\n<caption>Table 5.8.1: The Effects of Point Mutations<\/caption>\n<thead>\n<tr style=\"height: 14px\">\n<th scope=\"col\">Type<\/th>\n<th scope=\"col\">Description<\/th>\n<th scope=\"col\">Example<\/th>\n<th scope=\"col\">Effect<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr style=\"height: 29px\">\n<td>Silent<\/td>\n<td>mutated codon codes for the same <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_305\">amino\u00a0acid<\/a><\/td>\n<td>CAA (glutamine) \u2192 CAG (glutamine)<\/td>\n<td>none<\/td>\n<\/tr>\n<tr style=\"height: 29px\">\n<td>Missense<\/td>\n<td>mutated codon codes for a different amino\u00a0acid<\/td>\n<td>CAA (glutamine) \u2192 CCA (proline)<\/td>\n<td>variable<\/td>\n<\/tr>\n<tr style=\"height: 29px\">\n<td>Nonsense<\/td>\n<td>mutated codon is a premature stop codon<\/td>\n<td>CAA (glutamine) \u2192 UAA (stop) usually<\/td>\n<td>serious<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<h2>Frameshift Mutations<\/h2>\n<p>A\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2391\">frameshift mutation<\/a><\/strong>\u00a0is a deletion or insertion of one or more nucleotides, changing the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2230\">reading frame<\/a> of the\u00a0base\u00a0sequence. Deletions remove nucleotides, and insertions add nucleotides. Consider the following sequence of bases in\u00a0RNA:<\/p>\n<p><strong>AUG-AAU-ACG-GCU = start-asparagine-threonine-alanine<\/strong><\/p>\n<p>Now, assume that an insertion occurs in this sequence. Let\u2019s say an\u00a0<strong>A <\/strong>nucleotide is inserted after the start codon\u00a0<strong>AUG.<\/strong>\u00a0The sequence of bases becomes:<\/p>\n<p><strong>AUG-AA<span style=\"color: #800000;background-color: #ffff99\">A<\/span>-UAC-GGC-U = start-lysine-tyrosine-glycine<\/strong><\/p>\n<p>Even though the rest of the sequence is unchanged, this insertion changes the reading frame and, therefore, all of the codons that follow it. As this example shows, a frameshift mutation can dramatically change how the codons in mRNA are read. This can have a drastic effect on the\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_297\">protein<\/a>\u00a0product.<\/p>\n<div>\n<h1>Effects of Mutations<\/h1>\n<\/div>\n<p>The majority of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutations<\/a>\u00a0have neither negative nor positive effects on the organism in which they occur. These mutations are called neutral mutations. Examples include silent point mutations, which are neutral because they do not change the\u00a0amino acids\u00a0in the\u00a0proteins\u00a0they encode.<\/p>\n<p>Many other mutations have no effects on the organism because they are repaired before\u00a0protein synthesis\u00a0occurs.\u00a0Cells\u00a0have multiple repair mechanisms to fix mutations in DNA.<\/p>\n<h2>Beneficial Mutations<\/h2>\n<p>Some mutations \u2014 known as\u00a0<strong>beneficial mutations<\/strong>\u00a0\u2014\u00a0have a positive effect on the organism in which they occur. They generally code for new versions of\u00a0proteins\u00a0that help organisms adapt to their environment. If they increase an organism\u2019s chances of surviving or reproducing, the mutations are likely to become more common over time. There are several well-known examples of beneficial mutations. Here are two such examples:<\/p>\n<ol>\n<li>Mutations have occurred in\u00a0bacteria\u00a0that allow the bacteria to survive in the presence of antibiotic drugs, leading to the evolution of antibiotic-resistant strains of bacteria.<\/li>\n<li>A unique mutation is found in people in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Limone_sul_Garda\">Limone<\/a>,\u00a0 a small town in Italy. The mutation protects them from developing atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels despite a high-fat diet. The individual in which this mutation first appeared has even been identified and many of his descendants carry this gene.<\/li>\n<\/ol>\n<h2>Harmful Mutations<\/h2>\n<p>Imagine making a random change in a complicated\u00a0machine, such as a car engine.\u00a0There is a chance that the random change would result in a car that does not run well \u2014 or perhaps does not run at all. By the same token, a random change in a gene's DNA may result in the production of a\u00a0protein\u00a0that does not function normally... or may not function at all.\u00a0Such mutations are likely to be harmful.\u00a0<strong>Harmful mutations<\/strong>\u00a0may cause\u00a0genetic disorders\u00a0or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_1600\">cancer<\/a>.<\/p>\n<ul>\n<li>A <strong>genetic disorder<\/strong> is a disease, syndrome, or other abnormal condition caused by a mutation in one or more genes, or by a chromosomal alteration. An example of a genetic disorder is <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cystic_fibrosis\">cystic fibrosis<\/a>. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in digestive organs.<\/li>\n<li><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_1600\">Cancer<\/a> <\/strong>is a disease in which\u00a0cells\u00a0grow out of control and form abnormal masses of cells (called tumors). It is generally caused by mutations in genes that regulate the\u00a0cell cycle. Because of the mutations, cells with damaged <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_277\">DNA<\/a> are allowed to divide without restriction.<\/li>\n<\/ul>\n<div>\n<h1>Feature: My\u00a0Human Body<\/h1>\n<\/div>\n<p>Inherited mutations are thought to play a role in roughly five to ten per cent of all cancers. Specific mutations that cause many of the known hereditary cancers have been identified. Most of the mutations occur in genes that control the growth of cells or the repair of damaged DNA.<\/p>\n<p>Genetic testing can be done to determine whether individuals have inherited specific cancer-causing mutations. Some of the most common inherited cancers for which genetic testing is available include hereditary <a href=\"https:\/\/en.wikipedia.org\/wiki\/Breast_cancer\">breast<\/a> and <a href=\"https:\/\/en.wikipedia.org\/wiki\/Ovarian_cancer\">ovarian\u00a0cancer<\/a>, caused by mutations in genes\u00a0called\u00a0<a href=\"https:\/\/en.wikipedia.org\/wiki\/BRCA_mutation\">BRCA1 and BRCA2<\/a>. Besides breast and ovarian cancers, mutations in these genes may also cause pancreatic and prostate cancers.\u00a0Genetic testing is generally done on a small sample of body fluid or tissue, such as\u00a0blood, saliva, or skin cells. The sample is analyzed by a lab that specializes in genetic testing, and it usually takes at least a few weeks to get the test results.<\/p>\n<p>Should you get genetic testing to find out whether you have inherited a cancer-causing mutation? Such testing is not done routinely just to screen patients for risk of cancer. Instead, the tests are generally done only when the following three criteria are met:<\/p>\n<ol>\n<li>The test can determine definitively whether a specific gene mutation is present. This is the case with the BRCA1 and BRCA2 gene mutations, for example.<\/li>\n<li>The test results would be useful to help guide future medical care. For example, if you found out you had a mutation in the BRCA1 or BRCA2 gene, you might get more frequent breast and ovarian cancer screenings than are generally recommended.<\/li>\n<li>You have a personal or family history that suggests you are at risk of an inherited cancer.<\/li>\n<\/ol>\n<p>Criterion number 3 is based, in turn, on such factors as:<\/p>\n<ul>\n<li>Diagnosis of cancer at an unusually young age.<\/li>\n<li>Several different cancers occurring independently in the same individual.<\/li>\n<li>Several close genetic relatives having the same type of cancer (such as a maternal grandmother, mother, and sister all having breast cancer).<\/li>\n<li>Cancer occurring in both organs in a set of paired organs (such as both kidneys or both breasts).<\/li>\n<\/ul>\n<p>If you meet the criteria for genetic testing and are advised to undergo it, genetic counseling is highly recommended. A genetic counselor can help you understand what the results mean and how to make use of them to reduce your risk of developing cancer. For example, a positive test result that shows the presence of a mutation may not\u00a0<em>necessarily<\/em>\u00a0mean that you will develop cancer. It may depend on whether the gene is located on an autosome or sex chromosome, and whether the mutation is dominant or recessive. Lifestyle factors may also play a role in cancer risk even for hereditary cancers. Early detection can often be life saving if cancer does develop. Genetic counseling can also help you assess the chances that any children you may have will inherit the mutation.<\/p>\n<div>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.8 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">Mutations<\/a> are random changes in the sequence of bases in <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_277\">DNA<\/a> or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_519\">RNA<\/a>. Most people have multiple mutations in their DNA without ill effects. Mutations are the ultimate source of all new\u00a0genetic variation\u00a0in any\u00a0species.<\/li>\n<li>Mutations may happen spontaneously during <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2139\">DNA replication<\/a> or\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2241\">transcription<\/a>. Other mutations are caused by environmental factors called mutagens. Mutagens include radiation, certain chemicals, and some infectious agents.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2384\">Germline mutations<\/a> occur in gametes and may be passed onto offspring. Every cell in the offspring will then have the mutation. <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2385\">Somatic mutations<\/a> occur in cells other than gametes and are confined to just one cell and its daughter cells. These mutations cannot be passed on to offspring.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2388\">Chromosomal alterations<\/a> are mutations that change chromosome structure and usually affect the organism in multiple ways.\u00a0Charcot-Marie-Tooth disease type 1\u00a0is an example of a chromosomal alteration in humans.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2389\">Point mutations<\/a> are changes in a single nucleotide. The effects of point mutations depend on how they change the\u00a0genetic code\u00a0and may range from no effects to very serious effects.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2392\">Frameshift mutations<\/a> change the reading frame of the\u00a0genetic code\u00a0and are likely to have a drastic effect on the encoded\u00a0protein.<\/li>\n<li>Many mutations are neutral and have no effect on the organism in which they occur. Some mutations are beneficial and improve fitness. An example is a mutation that confers antibiotic\u00a0resistance\u00a0in\u00a0bacteria. Other mutations are harmful and decrease fitness, such as the mutations that cause\u00a0genetic disorders\u00a0or <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_1600\">cancers<\/a>.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.8 Review Question<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>Define mutation.<\/li>\n<li>Identify causes of mutation.<\/li>\n<li>Compare and contrast germline and somatic mutations.<\/li>\n<li>Describe chromosomal alterations, point mutations, and frameshift mutations. Identify the potential effects of each type of mutation.<\/li>\n<li>Why\u00a0do many mutations have neutral effects?<\/li>\n<li>Give one\u00a0example of a beneficial mutation and one\u00a0example of a harmful mutation.<\/li>\n<li>\n<div id=\"h5p-67\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-67\" class=\"h5p-iframe\" data-content-id=\"67\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Protein Synthesis\"><\/iframe><\/div>\n<\/div>\n<\/li>\n<li>Why do you think that exposure to mutagens (such as cigarette smoke) can cause cancer?<\/li>\n<li>Explain why the insertion or deletion of a single nucleotide can cause a frameshift mutation.<\/li>\n<li>Compare and contrast missense and nonsense mutations.<\/li>\n<li>Explain why mutations are important to\u00a0evolution.<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.8 Explore More<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?time_continue=51&amp;v=PQjL4ZDuq2o&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center\">How Radiation Changes Your DNA, Seeker, 2016.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=z9HIYjRRaDE&amp;t=93s<\/p>\n<p style=\"text-align: center\">Where do genes come from? - Carl Zimmer, TED-Ed, 2014.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=a63t8r70QN0&amp;feature=youtu.be<\/p>\n<p style=\"text-align: center\">What you should know about vaping and e-cigarettes | Suchitra Krishnan-Sarin,<br \/>\nTED, 2019.<\/p>\n<\/div>\n<\/div>\n<h2>Attributions<\/h2>\n<p><strong>Figure 5.8.1<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/patloika\/11027734365\/in\/photostream\/\" rel=\"cc:attributionURL\">Ninja Turtles<\/a>\u00a0by\u00a0<a href=\"https:\/\/www.flickr.com\/photos\/patloika\/\" rel=\"dc:creator\">Pat Loika<\/a> on <a href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\">CC BY 2.0 <\/a>(https:\/\/creativecommons.org\/licenses\/by\/2.0\/<a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">)<\/a> license.<\/p>\n<p><strong>Figure 5.8.2<\/strong><\/p>\n<div>Examples of Mutagens by Christine MIller is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/4.0\/\">CC BY SA 4.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-sa\/4.0\/) license.<br \/>\nSeparate images are all in public domain or CC licensed:<\/div>\n<ul>\n<li><a style=\"font-size: 1em\" href=\"https:\/\/pixabay.com\/illustrations\/beauty-treatment-face-mask-girl-163540\/\">Beauty treatment face mask<\/a><span style=\"font-size: 1em\"> by <\/span><a style=\"font-size: 1em\" href=\"https:\/\/pixabay.com\/users\/no-longer-here-19203\/\">no-longer-here<\/a><span style=\"font-size: 1em\"> on <\/span><a style=\"font-size: 1em\" href=\"https:\/\/pixabay.com\/\">Pixabay<\/a><span style=\"font-size: 1em\"> is used under the <\/span><a style=\"font-size: 1em\" href=\"https:\/\/pixabay.com\/service\/license\/\">Pixabay License<\/a><span style=\"font-size: 1em\"> (https:\/\/pixabay.com\/service\/license\/).<\/span><\/li>\n<li><a href=\"https:\/\/www.flickr.com\/photos\/ajc1\/277161177\">HPV<\/a> by <a class=\"owner-name truncate\" title=\"Go to AJC1's photostream\" href=\"https:\/\/www.flickr.com\/photos\/ajc1\/\" data-track=\"attributionNameClick\">AJC1<\/a> on <a href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a\u00a0<a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/\">CC BY-NC 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/) license.<\/li>\n<li><span style=\"background-color: #ffffff\"><a style=\"background-color: #ffffff\" href=\"https:\/\/www.flickr.com\/search\/?user_id=47353092%40N00&amp;view_all=1&amp;text=bacteria\">H Pylori<\/a> by <a class=\"owner-name truncate\" style=\"background-color: #ffffff\" title=\"Go to AJC1's photostream\" href=\"https:\/\/www.flickr.com\/photos\/ajc1\/\" data-track=\"attributionNameClick\">AJC1<\/a> on <a style=\"background-color: #ffffff\" href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a <a style=\"background-color: #ffffff\" href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/\">CC BY-NC 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/) license.\u00a0<\/span><\/li>\n<li><span style=\"font-size: 1em\"><a href=\"https:\/\/www.flickr.com\/photos\/vaping360\/18539459466\">Vape and Cigarette<\/a> by <a class=\"owner-name truncate\" title=\"Go to Vaping360's photostream\" href=\"https:\/\/www.flickr.com\/photos\/vaping360\/\" data-track=\"attributionNameClick\">Vaping360<\/a><\/span> on <a href=\"https:\/\/www.flickr.com\/\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.<\/li>\n<li><span style=\"font-size: 1em\"><a href=\"https:\/\/commons.wikimedia.org\/w\/index.php?curid=12143891\">Hand X-Ray<\/a> by<\/span> <a title=\"User:Hellerhoff\" href=\"https:\/\/commons.wikimedia.org\/wiki\/User:Hellerhoff\">Hellerhoff<\/a> on Wikimedia Commons - <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en\">CC BY-SA 3.0 <\/a>(https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.<\/li>\n<li><a href=\"https:\/\/www.pxfuel.com\/en\/free-photo-obmsy\"><span style=\"font-size: 1em\">Hot dogs<\/span><\/a><span style=\"font-size: 1em\"> by unknown on <a href=\"https:\/\/www.pxfuel.com\/\">PxFuel<\/a> is used under the <a href=\"https:\/\/www.pxfuel.com\/terms-of-use\">Pxfuel Terms <\/a>(https:\/\/www.pxfuel.com\/terms-of-use).<\/span><\/li>\n<li>Sunshine face is clipart.<\/li>\n<\/ul>\n<p><strong>Figure 5.8.3<\/strong><\/p>\n<p><span style=\"text-align: initial;font-size: 1em;color: #373d3f\">Scheme of possible chromosome mutations\/ <a href=\"https:\/\/commons.wikimedia.org\/w\/index.php?curid=1413589\">Chromosomenmutationen<\/a> by unknown on Wikimedia Commons is adapted from N<\/span><span style=\"color: #373d3f;font-size: 1em\">IH<\/span><span style=\"text-align: initial;font-size: 1em;color: #373d3f\">'s <a href=\"https:\/\/www.genome.gov\/genetics-glossary\/Mutation\">Talking Glossary of Genetics<\/a>. [Changes as described by <a href=\"https:\/\/de.wikipedia.org\/wiki\/Benutzer:Dietzel65\">de:user:Dietzel65<\/a>]. Further use and adapation (text translated to English) by\u00a0<\/span><span style=\"text-align: initial;font-size: 1em;color: #373d3f\">Christine Miller as image is in the <a style=\"text-align: initial;font-size: 1em\" href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><span style=\"font-size: 1.424em;font-weight: bold\">References<\/span><\/p>\n<p class=\"hanging-indent\">Seeker. (2016, April 23). How radiation changes your DNA. YouTube. https:\/\/www.youtube.com\/watch?v=PQjL4ZDuq2o&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED. (2019, June 5). What you should know about vaping and e-cigarettes | Suchitra Krishnan-Sarin. YouTube. https:\/\/www.youtube.com\/watch?v=a63t8r70QN0&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED-Ed. (2014, September 22). Where do genes come from? - Carl Zimmer. YouTube. https:\/\/www.youtube.com\/watch?v=z9HIYjRRaDE&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 6). Breast cancer. In Wikipedia.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Breast_cancer&amp;oldid=966366739<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 9). Charcot\u2013Marie\u2013Tooth disease. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Charcot%E2%80%93Marie%E2%80%93Tooth_disease&amp;oldid=966912915<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 7). Cystic fibrosis. In <em>Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Cystic_fibrosis&amp;oldid=966566921<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, June 4). Limone sul Garda. In\u00a0<i>Wikipedia. <\/i>https:\/\/en.wikipedia.org\/w\/index.php?title=Limone_sul_Garda&amp;oldid=960771991<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, June 23). Ovarian cancer. In <em>Wikipedia<\/em>.\u00a0 https:\/\/en.wikipedia.org\/w\/index.php?title=Ovarian_cancer&amp;oldid=964157192<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, May 7). BRCA mutation. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=BRCA_mutation&amp;oldid=955463902<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, July 10). Teenage Mutant Ninja Turtles. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=Teenage_Mutant_Ninja_Turtles&amp;oldid=967030468<\/p>\n<p>&nbsp;<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4551\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4551\"><div tabindex=\"-1\"><p>A stem cell can become any type of body cell based on gene regulation.  Types of cells a stem cell can become include, but are not limited to: Sex cells, muscle cells, fat cells, immune cells, bone cells, epithelial cells, nervous cells, and blood cells.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4582\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4582\"><div tabindex=\"-1\"><\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4593\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4593\"><div tabindex=\"-1\"><p>Image shows that Human Adult Height. Like many other polygenic traits, adult height has a bell-shaped distribution.  The average height for adult females is 5 feet 5 inches, from ranges from 4 feet 7 inches all the way up to 6 feet 5 inches.  In males, the same normal curve is observed, but with slightly higher values.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5777\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5777\"><div tabindex=\"-1\"><p>A very large molecule, such as protein, commonly created by the polymerization of smaller subunits (monomers).<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5655\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5655\"><div tabindex=\"-1\"><p>A biomolecule consisting of carbon (C), hydrogen (H) and oxygen (O) atoms, usually with a hydrogen\u2013oxygen atom ratio of 2:1.  Complex carbohydrates are polymers made from monomers of simple carbohydrates, also termed monosaccharides.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5813\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5813\"><div tabindex=\"-1\"><p>A class of biological molecule consisting of linked monomers of amino acids and which are the most versatile macromolecules in living systems and serve crucial functions in essentially all biological processes.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5651\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5651\"><div tabindex=\"-1\"><p>A substance that is insoluble in water.  Examples include fats, oils and cholesterol.  Lipids are made from monomers such as glycerol and fatty acids.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5475\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5475\"><div tabindex=\"-1\"><p>A complex organic substance present in living cells, especially DNA or RNA, whose molecules consist of many nucleotides linked in a long chain.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_316\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_316\"><div tabindex=\"-1\"><\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5707\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5707\"><div tabindex=\"-1\"><p>Amino acids are organic compounds that combine to form proteins.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5657\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5657\"><div tabindex=\"-1\"><p>Long chains of hydrocarbons with a carboxyl group and a methyl group at opposite ends.  Can be either saturated, containing mostly single bonds between adjacent carbons, or unsaturated, containing many double bonds between adjacent carbons.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4576\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4576\"><div tabindex=\"-1\"><p>Image shows the process of crossing over.  A pair of homologous chromosomes are side by side.  They then overlap the ends of their structures and trades these sections, attaching some maternal DNA onto the paternal chromosome, and some paternal DNA onto the maternal chromosome. The result is that, within the homologous pair of chromosomes, each of the four pieces of DNA, destined to enter 4 separate cells, is now consists of a unique mix of genes.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5757\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5757\"><div tabindex=\"-1\"><p>Biological molecules that lower amount the energy required for a reaction to occur.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_6001\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_6001\"><div tabindex=\"-1\"><p>Gland such as a sweat gland, salivary gland, or mammary gland that secretes a substance into a duct that carries the secretion to the outside of the body.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4561\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4561\"><div tabindex=\"-1\"><p>Image shows the inheritance pattern of blossom colour in pea plants.   In the parental generation, a purple blossomed plant was crossed with a white blossomed plant.  In the next generation (F1), all blossoms were purple. When the F1 generation self-pollinated, 75% of the resulting F2 generation had purple blossoms while the remaining 25% had white blossoms.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4577\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4577\"><div tabindex=\"-1\"><p>Image illustrates how independent alignment greatly increases the genetic diversity among gametes produced.  In a single cell undergoing Meiosis, independent alignment means that whether the paternal or maternal chromosome for each homologous pair ends up on the left or right is totally random, and is random for each pair of homologous chromosomes.  In a cell which has 3 pairs of homologous chromosomes, there are 8 possible random alignments, which would each result in a different set of gametes being produced.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4558\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4558\"><div tabindex=\"-1\"><p>Image shows a photograph of Gregor Mendel.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_3197\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_3197\"><div tabindex=\"-1\"><p>Image shows a diagram of Killer T Cell funtion.  An infected cell displays a pathogen antigen on an MHC.  The Killer T Cell interacts with the MHC and in response produces perforin ( a protein that pokes holes in cell membranes) and granzymes (proteins that instruct a cell to carry out programmed cell death). The infected cell dies from the combination of these substances, and as it dies, so does the pathogen inside the infected cell.  The Killer T Cell is free to move on and find and destroy other infected cells.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5683\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5683\"><div tabindex=\"-1\"><p>Polysaccharides are carbohydrate molecules composed of long chains of monosaccharide units bound together.  They range in structure from linear to highly branched.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5451\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5451\"><div tabindex=\"-1\"><p>Glucose (also called dextrose) is a simple sugar with the molecular formula C6H12O6. Glucose is the most abundant monosaccharide, a subcategory of carbohydrates. Glucose is mainly made by plants and most algae during photosynthesis from water and carbon dioxide, using energy from sunlight.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5459\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5459\"><div tabindex=\"-1\"><p>A stored form of glucose used by plants.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_327\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_327\"><div tabindex=\"-1\"><p>Created by:\u00a0CK-12\/Adapted by Christine Miller<\/p>\n<div>\n<h1>Case Study: Cancer in the Family<\/h1>\n<\/div>\n<figure id=\"attachment_325\" aria-describedby=\"caption-attachment-325\" style=\"width: 430px\" class=\"wp-caption alignleft\"><img class=\"wp-image-325\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Family-Tree.png\" alt=\"Image shows a family tree with three generations. The tree shows cartoon faces for each person on the tree, not names. The images show a variety of diverse faces.\" width=\"430\" height=\"396\"><figcaption id=\"caption-attachment-325\" class=\"wp-caption-text\"><em>Figure 5.1.1 Family tree - three generations.<\/em><\/figcaption><\/figure>\n<p>People tend to carry similar traits to their biological parents, as illustrated by the family tree. Beyond just appearance, you can also inherit traits from your parents that you <em>can\u2019t<\/em>\u00a0see.<\/p>\n<p>Rebecca becomes very aware of this fact when she visits her new doctor for a physical exam. Her doctor asks several questions about her family medical history, including whether Rebecca has or had relatives with cancer. Rebecca tells her that her grandmother, aunt, and uncle \u2014 who have all passed away \u2014 had cancer. They all had breast cancer, including her uncle, and her aunt\u00a0also\u00a0had ovarian cancer. Her doctor asks how old they were when they were diagnosed with cancer. Rebecca is not sure exactly, but she knows that her grandmother was fairly young at the time, probably in her forties.<\/p>\n<p>Rebecca\u2019s doctor explains that while the vast majority of cancers are not due to inherited factors, a cluster of cancers within a family may indicate that there are mutations in certain genes that increase the risk of getting certain types of cancer, particularly breast and ovarian cancer. Some signs that cancers may be due to these genetic factors are present in Rebecca\u2019s family, such as cancer with an early age of onset (e.g., breast cancer before age 50), breast cancer in men, and breast cancer and ovarian cancer within the same person or family.<\/p>\n<p>Based on her family medical history, Rebecca\u2019s doctor recommends that she see a genetic counselor, because these professionals can help determine whether the high incidence of cancers in her family could be due to inherited mutations in their genes. If so, they can test Rebecca to find out whether she has the particular variations of these genes that would increase her risk of getting cancer.<\/p>\n<p>When Rebecca sees the genetic counselor, he asks how her grandmother, aunt, and uncle with cancer are related to her. She says that these relatives are all on her mother\u2019s side \u2014 they are her mother\u2019s mother and siblings. The genetic counselor records this information in the form of a specific type of family tree, called a pedigree, indicating which relatives had which type of cancer, and how they are related to each other and to Rebecca.<\/p>\n<p>He also asks her ethnicity. Rebecca says that her family on both sides are Ashkenazi Jews (Jews whose ancestors came from central and eastern Europe). \u201cBut what does that have to do with anything?\u201d she asks. The counselor tells Rebecca that mutations in two tumor-suppressor genes called <a href=\"https:\/\/en.wikipedia.org\/wiki\/BRCA1\">BRCA1<\/a> and <a href=\"https:\/\/en.wikipedia.org\/wiki\/BRCA2\">BRCA2<\/a>, located on chromosome 17 and 13, respectively, are particularly prevalent in people of <a href=\"https:\/\/en.wikipedia.org\/wiki\/Ashkenazi_Jews\">Ashkenazi<\/a> Jewish descent and greatly increase the risk of getting cancer. About one in 40 Ashkenazi Jewish people have one of these mutations, compared to about one in 800 in the general population. Her ethnicity, along with the types of cancer, age of onset, and the specific relationships between her family members who had cancer, indicate to the counselor that she is a good candidate for genetic testing for the presence of these mutations.<\/p>\n<figure id=\"attachment_325\" aria-describedby=\"caption-attachment-325\" style=\"width: 429px\" class=\"wp-caption alignright\"><img class=\" wp-image-2096\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Rebecca-scaled-1.jpg\" alt=\"In this image, a woman looks thoughtfully out at the countryside.\" width=\"429\" height=\"286\"><figcaption id=\"caption-attachment-325\" class=\"wp-caption-text\"><em>Figure 5.1.2 Rebecca is not sure if she wants to know if she is at an increased risk of breast and ovarian cancer.<\/em><\/figcaption><\/figure>\n<p>Rebecca says that her 72-year-old mother never had cancer, nor had many other relatives on that side of the family. How could the cancers be genetic? The genetic counselor explains that the mutations in the BRCA1 and BRCA2 genes, while dominant, are not inherited by <em>everyone<\/em> in a family. Also, even people with mutations in these genes do not necessarily get cancer \u2014 the mutations simply increase their risk of getting cancer. For instance, 55 to 65 per cent of women with a harmful mutation in the BRCA1 gene will get breast cancer before age 70, compared to 12 per cent of women in the general population who will get breast cancer sometime over the course of their lives.<\/p>\n<p>Rebecca is not sure she wants to know whether she has a higher risk of cancer. The genetic counselor understands her apprehension, but explains that if she knows that she has harmful mutations in either of these genes, her doctor will screen her for cancer more often and at earlier ages. Therefore, any cancers she may develop are likely to be caught earlier when they are often much more treatable. Rebecca decides to go through with the testing, which involves taking a blood sample, and nervously waits for her results.<\/p>\n<div class=\"textbox textbox--learning-objectives\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\">Chapter Overview: Genetics<\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p>At the end of this chapter, you will find out Rebecca\u2019s test results. By then, you will have learned how traits are inherited from parents to offspring through genes, and how mutations in genes such as BRCA1 and BRCA2 can be passed down and cause disease. Specifically, you will learn about:<\/p>\n<ul>\n<li>The structure of DNA.<\/li>\n<li>How DNA replication occurs.<\/li>\n<li>How DNA was found to be the inherited genetic material.<\/li>\n<li>How genes and their different alleles are located on chromosomes.<\/li>\n<li>The 23 pairs of human chromosomes, which include autosomal and sex chromosomes.<\/li>\n<li>How genes code for proteins using codons made of the sequence of nitrogen bases within RNA and DNA.<\/li>\n<li>The central dogma of molecular biology, which describes how DNA is transcribed into RNA, and then translated into proteins.<\/li>\n<li>The structure, functions, and possible evolutionary history of RNA.<\/li>\n<li>How proteins are synthesized through the transcription of RNA from DNA and the translation of protein from RNA, including how RNA and proteins can be modified, and the roles of the different types of RNA.<\/li>\n<li>What mutations are, what causes them, different specific types of mutations, and the importance of mutations in evolution and to human health.<\/li>\n<li>How the expression of genes into proteins is regulated and why problems in this process can cause diseases, such as cancer.<\/li>\n<li>How Gregor Mendel discovered the laws of inheritance for certain types of traits.<\/li>\n<li>The science of heredity, known as genetics, and the relationship between genes and traits.<\/li>\n<li>How gametes, such as eggs and sperm, are produced through meiosis.<\/li>\n<li>How sexual reproduction works on the cellular level and how it increases genetic variation.<\/li>\n<li>Simple Mendelian and more complex non-Mendelian inheritance of some human traits.<\/li>\n<li>Human genetic disorders, such as Down syndrome, hemophilia A, and disorders involving sex chromosomes.<\/li>\n<li>How biotechnology \u2014 which is the use of technology to alter the genetic makeup of organisms \u2014 is used in medicine and agriculture, how it works, and some of the ethical issues it may raise.<\/li>\n<li>The human genome, how it was sequenced, and how it is contributing to discoveries in science and medicine.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox shaded\">\n<p>As you read this chapter, keep Rebecca\u2019s situation in mind and think about the following questions:<\/p>\n<ol>\n<li>BCRA1 and BCRA2 are also called Breast cancer type 1 and 2 susceptibility proteins.\u00a0 What do the BRCA1 and BRCA2 genes normally do? How can they cause cancer?<\/li>\n<li>Are BRCA1 and BRCA2 linked genes? Are they on autosomal or sex chromosomes?<\/li>\n<li>After learning more about pedigrees, draw the pedigree for cancer in Rebecca\u2019s family. Use the pedigree to help you think about why it is possible that her mother does not have one of the BRCA gene mutations, even if her grandmother, aunt, and uncle did have it.<\/li>\n<li>Why do you think certain gene mutations are prevalent in certain ethnic groups?<\/li>\n<\/ol>\n<\/div>\n<h2>Attributions<\/h2>\n<p><strong>Figure 5.1.1<\/strong><\/p>\n<p><a href=\"http:\/\/www.clker.com\/search\/face\/12\" rel=\"cc:attributionURL\">Family Tree<\/a> [all individual face images] from <a href=\"http:\/\/www.clker.com\/\">Clker.com<\/a> used and adapted by Christine Miller under a <a href=\"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/\">CC0 1.0<\/a> public domain dedication license (https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/).<\/p>\n<p><strong>Figure 5.1.2<\/strong><\/p>\n<p><a href=\"https:\/\/unsplash.com\/photos\/P9rQn2qcEV0\" rel=\"cc:attributionURL\">Rebecca<\/a> by <a href=\"https:\/\/unsplash.com\/@kylebroad\">Kyle Broad<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, June 27). Ashkenazi Jews. In\u00a0<i>Wikipedia. <\/i>\u00a0https:\/\/en.wikipedia.org\/w\/index.php?title=Ashkenazi_Jews&amp;oldid=964691647<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, June 22). BRCA1. In <em>Wikipedia<\/em>. https:\/\/en.wikipedia.org\/w\/index.php?title=BRCA1&amp;oldid=963868423<\/p>\n<p class=\"hanging-indent\">Wikipedia contributors. (2020, May 25). BRCA2. In\u00a0<i>Wikipedia. <\/i>\u00a0https:\/\/en.wikipedia.org\/w\/index.php?title=BRCA2&amp;oldid=958722957<\/p>\n<p class=\"hanging-indent\">\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4594\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4594\"><div tabindex=\"-1\"><p>Image shows a hand with a tan line where a watch had been worn.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4578\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4578\"><div tabindex=\"-1\"><p>Image shows a sperm fertilizing an egg.  The Sperm is much smaller than the egg.  <\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4595\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4595\"><div tabindex=\"-1\"><p>Image shows the difference in morphology between a sickle cell and a normal red blood cell.  The normal red blood cells are shaped like danishes, while the sickle cells are shaped like bananas<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_1593\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_1593\"><div tabindex=\"-1\"><\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4581\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4581\"><div tabindex=\"-1\"><\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4597\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4597\"><div tabindex=\"-1\"><p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<div id=\"h5p-510\">\n<div class=\"h5p-content\" data-content-id=\"510\"><\/div>\n<\/div>\n<p><em>Figure 5.14.1 Collage of Diverse Faces.<\/em><\/p>\n<p>This collage shows some of the variation in human skin colour, which can range from very light to very dark, with every possible gradation in between.\u00a0 As you might expect, the skin color trait has a more complex genetic basis than just one gene with two alleles, which is the type of simple trait that Mendel studied in pea plants. Like skin color, many other human traits have more complicated modes of inheritance than Mendelian traits. Such modes of inheritance are called <strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2537\">non-Mendelian inheritance<\/a>,<\/strong>\u00a0and they include inheritance of\u00a0multiple allele traits, traits with codominance or incomplete dominance, and\u00a0polygenic traits, among others. All of\u00a0these modes\u00a0are described below.<\/p>\n<div>\n<h1>Multiple Allele Traits<\/h1>\n<\/div>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2709\" aria-describedby=\"caption-attachment-2709\" style=\"width: 385px\" class=\"wp-caption alignright\"><img class=\" wp-image-2709\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Blood-types-1-2.png\" alt=\"ABO Blood types\" width=\"385\" height=\"408\" \/><figcaption id=\"caption-attachment-2709\" class=\"wp-caption-text\"><em>Figure 5.14.2 ABO blood types per genotype.<\/em><\/figcaption><\/figure>\n<p>The majority of human genes are thought to have more than two normal versions, or\u00a0alleles. Traits controlled by a single gene with more than two alleles are called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2540\">multiple allele traits<\/a><\/strong>. An example is ABO blood type. Your blood type refers to which of certain proteins called antigens are found on your red blood cells. There are three common alleles for this trait, which are represented by the letters A, B, and O.<\/p>\n<p>As shown in the table there are six possible ABO genotypes, because the three alleles, taken two at a time, result in six possible combinations. The A and B alleles are dominant to the O allele. As a result, both AA and AO genotypes have the same phenotype, with the A antigen in their blood (type A blood). Similarly, both BB and BO genotypes have the same phenotype, with the B antigen in their blood (type B blood). No antigen is associated with the O allele, so people with the OO genotype have no antigens for ABO blood type in their blood (type O blood).<\/p>\n<div>\n<h1>Codominance<\/h1>\n<\/div>\n<p>Look at the genotype AB in the ABO blood group table. Alleles A and B for ABO blood type\u00a0are neither <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5973\">dominant<\/a> nor <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2479\">recessive<\/a> to one another. Instead, they are codominant.\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2544\">Codominance<\/a><\/strong>\u00a0occurs when two alleles for a gene are expressed equally in the phenotype of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2474\">heterozygotes<\/a>. In the case of ABO blood type, AB heterozygotes have a unique phenotype, with both A and B antigens in their blood (type AB blood).<\/p>\n<div>\n<h1>Incomplete Dominance<\/h1>\n<\/div>\n<p>Another relationship that may occur between alleles for the same gene is\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2545\">incomplete dominance<\/a>.<\/strong>\u00a0This occurs when the dominant allele is not completely dominant. In this case, an intermediate phenotype results in heterozygotes who inherit both alleles. Generally, this happens when the two alleles for a given gene both produce\u00a0proteins, but one\u00a0protein\u00a0is not functional. As a result, the heterozygote individual produces only half the amount of normal protein as is produced by an individual who is homozygous for the normal allele.<\/p>\n<p>An example of incomplete dominance in humans is <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/tay-sachs-disease\/symptoms-causes\/syc-20378190\">Tay Sachs disease<\/a>. The normal allele for the gene in this case produces an\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5757\">enzyme<\/a>\u00a0that is responsible for breaking down\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5651\">lipids<\/a>. A defective allele for the gene results in the production of a nonfunctional enzyme. Heterozygotes who have one normal and one defective allele produce half as much functional enzyme as the normal homozygote, and this is enough for normal\u00a0development. Homozygotes who have only defective allele, however, produce only nonfunctional enzyme. This leads to the accumulation of lipids in the brain\u00a0starting\u00a0<em>in utero<\/em>, which causes significant brain damage. Most individuals with Tay Sachs disease die at a young age, typically by the age of five years.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_6216\" aria-describedby=\"caption-attachment-6216\" style=\"width: 551px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-6216 size-full\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Incomplete-dominance-hair-1-2.png\" alt=\"5.14.2 Incomplete dominance of hair.\" width=\"551\" height=\"348\" \/><figcaption id=\"caption-attachment-6216\" class=\"wp-caption-text\"><em>Figure 5.14.3 Three phenotypes of hair through the incomplete dominance model.<\/em><\/figcaption><\/figure>\n<p>Another good example of incomplete dominance in humans is hair type.\u00a0 There are genes for straight and curly hair, and if an individual is heterozygous, they will typically have the phenotype of wavy hair.<\/p>\n<div>\n<h1>Polygenic Traits<\/h1>\n<\/div>\n<figure id=\"attachment_2549\" aria-describedby=\"caption-attachment-2549\" style=\"width: 500px\" class=\"wp-caption alignleft\"><img class=\"size-full wp-image-2549\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Average-height-2.png\" alt=\"Like many other polygenic traits, adult height has a bell-shaped distribution.\" width=\"500\" height=\"363\" \/><figcaption id=\"caption-attachment-2549\" class=\"wp-caption-text\"><em>Figure 5.14.4 Human Adult Height. Like many other polygenic traits, adult height has a bell-shaped distribution.<\/em><\/figcaption><\/figure>\n<p>Many human traits are controlled by more than one gene. These traits are called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2548\">polygenic traits<\/a><\/strong>. The alleles of each gene have a minor additive effect on the phenotype. There are many possible combinations of alleles, especially if each gene has multiple alleles. Therefore, a whole continuum of phenotypes is possible.<\/p>\n<p>An example of a human polygenic trait is adult height. Several genes, each with more than one allele, contribute to this trait, so there are many possible adult heights. One adult\u2019s height might be 1.655 m (5.430 feet), and another adult\u2019s height might be 1.656 m (5.433 feet). Adult height ranges from less than 5 feet to more than 6 feet, with males, on average, being somewhat taller than females. The majority of people fall near the middle of the range of heights for their sex, as shown in <span style=\"text-align: initial; font-size: 1em;\">Figure 5.14.4.<\/span><\/p>\n<div>\n<p><span style=\"font-size: 1.602em; font-weight: bold;\">Environmental Effects on Phenotype<\/span><\/p>\n<\/div>\n<figure id=\"attachment_2550\" aria-describedby=\"caption-attachment-2550\" style=\"width: 236px\" class=\"wp-caption alignright\"><img class=\"wp-image-2550\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Tan-lines-2.jpg\" alt=\"Image shows a hand with a tan line where a watch had been worn.\" width=\"236\" height=\"236\" \/><figcaption id=\"caption-attachment-2550\" class=\"wp-caption-text\"><em>Figure 5.14.5 Due to the effects of UV radiation, the skin on the upper part of the arm is much darker in color than the\u00a0 skin that was protected by a watch strap.<\/em><\/figcaption><\/figure>\n<p>Many traits are affected by the environment, as well as by genes. This may be especially true for polygenic traits. Adult height, for example, might be negatively impacted by poor diet or childhood illness. Skin color is another polygenic trait. There is a wide range of skin colors in people worldwide. In addition to differences in genes, differences in exposure to ultraviolet (UV) light cause some variation. As shown in Figure 5.14.5, exposure to UV light darkens the skin.<\/p>\n<div>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<h1>Pleiotropy<\/h1>\n<\/div>\n<p>Some genes affect more than one phenotypic trait. This is called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2552\">pleiotropy<\/a><\/strong>. There are numerous examples of pleiotropy in humans. They generally involve important\u00a0proteins\u00a0that are needed for the normal\u00a0development\u00a0or functioning of more than one organ system. An example of\u00a0pleiotropy in humans occurs with the gene that codes for the main\u00a0protein\u00a0in collagen, a substance that helps form\u00a0bones. This protein is also important in the ears and\u00a0eyes.\u00a0Mutations\u00a0in the gene result in problems not only in bones, but also in these sensory organs, which is how the gene's pleiotropic effects were discovered.<\/p>\n<p>Another example of pleiotropy occurs with <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876\">sickle cell anemia<\/a>. This recessive genetic disorder occurs when there is a mutation in the gene that normally encodes the red blood cell <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5813\">protein<\/a> called hemoglobin. People with the disorder have two alleles for sickle cell hemoglobin, so named for the sickle shape (pictured in Figure 5.14.6) that their red blood cells take on under certain conditions (like physical exertion). The sickle-shaped red blood cells clog small blood vessels, causing multiple phenotypic effects, including stunting of physical growth, certain bone deformities, kidney failure, and strokes.<\/p>\n<figure id=\"attachment_2553\" aria-describedby=\"caption-attachment-2553\" style=\"width: 385px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2553\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Sickle-cell-anemia-2.jpg\" alt=\"Image shows the difference in morphology between a sickle cell and a normal red blood cell.\" width=\"385\" height=\"434\" \/><figcaption id=\"caption-attachment-2553\" class=\"wp-caption-text\"><em>Figure 5.14.6 For comparison, the sickle-shaped red blood cell on the left is shown next to several normal red blood cells.<\/em><\/figcaption><\/figure>\n<div>\n<p><span style=\"font-size: 1.602em; font-weight: bold;\">Epistasis<\/span><\/p>\n<\/div>\n<p>Some genes affect the expression of other genes. This is called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5993\">epistasis<\/a><\/strong>. Epistasis is similar to dominance, except that it occurs between different genes, rather than between different alleles for the same gene.<\/p>\n<p>Albinism is an example of epistasis. A person with albinism has virtually no pigment in the skin. The condition occurs due to an entirely different gene than the genes that encode skin\u00a0color. Albinism occurs because a protein called tyrosinase, which is needed for the\u00a0production of normal skin pigment, is not produced, due to a gene\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutation<\/a>.\u00a0If an individual has the albinism\u00a0mutation, he or she will not have any skin pigment, regardless of the skin color genes that were inherited.<\/p>\n<div>\n<h3>Feature: My\u00a0Human Body<\/h3>\n<\/div>\n<p>Do you know your ABO blood type? In an emergency, knowing this valuable piece of information could possibly save your life. If you ever need a blood transfusion, it is vital that you receive blood that matches your own blood type. Why? If the blood transfused into your body contains an antigen that your own blood does not contain, antibodies in your blood\u00a0plasma\u00a0(the\u00a0liquid\u00a0part of your blood) will recognize the antigen as foreign to your body and cause a reaction called agglutination. In this reaction, the transfused red blood\u00a0cells will clump together. The agglutination reaction is serious and potentially fatal.<\/p>\n<p>Knowing the antigens and antibodies present in each of the ABO blood types will help you understand which type(s) of blood you can safely receive if you ever need a transfusion. This information is shown in Figure 5.14.7 for all of the ABO blood types. If you have blood type A, this means that your red blood cells have the A antigen and that your blood plasma contains anti-B antibodies. If you were to receive a transfusion of type B or type AB blood, both of which have the B antigen, your anti-B antibodies would attack the transfused red blood cells, causing agglutination.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2555\" aria-describedby=\"caption-attachment-2555\" style=\"width: 553px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2555\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/ABO_blood_type.svg_-2.png\" alt=\"Image shows a table of each blood type, which antigens and antibodies are present, and acceptable blood donor types.\" width=\"553\" height=\"356\" \/><figcaption id=\"caption-attachment-2555\" class=\"wp-caption-text\"><em>Figure 5.14.7 Antigens and antibodies in ABO blood types.<\/em><\/figcaption><\/figure>\n<div>\n<p>&nbsp;<\/p>\n<\/div>\n<p>You may have heard that people with blood type O are called \"universal donors,\" and that people with blood type AB are called universal recipients. People with type O blood have neither A nor B antigens in their blood, so if their blood is transfused into someone with a different ABO blood type, it causes no immune reaction, meaning they can donate blood to anyone. On the other hand, people with type AB blood have no anti-A or anti-B antibodies in their blood, so they can receive a transfusion of blood from anyone. Which blood type(s) can safely receive a transfusion of type AB blood, and which blood type(s) can be safely received by those with type O blood?<\/p>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.14 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2537\">Non-Mendelian inheritance<\/a> refers to the inheritance of traits that have a more complex genetic basis than one <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5521\">gene<\/a> with two <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5449\">alleles<\/a> and complete <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5971\">dominance<\/a>.<\/li>\n<li>Multiple allele traits are controlled by a single gene with more than two alleles. An example of a human multiple allele trait is ABO blood type, for which there are three common alleles: A, B, and O.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2544\">Codominance<\/a> occurs when two alleles for a gene are expressed equally in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2477\">phenotype<\/a> of heterozygotes. A human example of codominance also occurs in the ABO blood type, in which the A and B alleles are codominant.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2545\">Incomplete dominance<\/a> is the case in which the dominant allele for a gene is not completely dominant to a recessive allele for the gene, so an intermediate phenotype occurs in <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2474\">heterozygotes<\/a> who inherit both alleles. A human example of incomplete dominance is Tay Sachs disease, in which heterozygotes produce half as much functional\u00a0enzyme\u00a0as normal homozygotes.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2548\">Polygenic traits<\/a> are controlled by more than one gene, each of which has a minor additive effect on the phenotype. This results in a whole continuum of phenotypes. Examples of human polygenic traits include skin color and adult\u00a0height.<\/li>\n<li>Many traits are affected by\u00a0the environment, as well as by genes. This may be especially true for polygenic traits.\u00a0Skin color, for example, may be affected by exposure to UV light, and adult stature may be affected by diet or\u00a0childhood\u00a0disease.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2552\">Pleiotropy<\/a> refers to the situation in which a gene affects more than one phenotypic trait. A human example of pleiotropy occurs with sickle cell anemia. People who inherit two <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2479\">recessive<\/a> alleles for this disorder have abnormal red blood cells and may exhibit multiple other phenotypic effects, such as stunting of physical growth, kidney failure, and strokes.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5993\">Epistasis<\/a> is the situation in which one gene affects the expression of other genes. An example of epistasis is albinism, in which the albinism mutation negates the expression of skin color genes.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.14 Review Questions<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>What is non-Mendelian inheritance?<\/li>\n<li>\n<div id=\"h5p-511\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-511\" class=\"h5p-iframe\" data-content-id=\"511\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Non Mendelian Inheritance\"><\/iframe><\/div>\n<\/div>\n<\/li>\n<li>Explain why the human ABO blood group is an example of a multiple allele trait with codominance.<\/li>\n<li>What is incomplete dominance? Give an example of this type of non-Mendelian inheritance in humans.<\/li>\n<li>Explain the genetic basis of human skin color.<\/li>\n<li>How can the human trait of adult height be influenced by the environment?<\/li>\n<li>Define pleiotropy, and give a human example.<\/li>\n<li>Compare and contrast epistasis and dominance.<\/li>\n<li>What is the difference between pleiotropy and epistasis?<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.14 Explore More<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?time_continue=1&amp;v=YJHGfbW55l0&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center;\">Incomplete Dominance, Codominance, Polygenic Traits, and Epistasis!,<br \/>\nAmoeba Sisters, 2015.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=-4vsio8TZrU&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center;\">Non-Mendelian Genetics, Teacher's Pet, 2015.<\/p>\n<\/div>\n<\/div>\n<h2>Attributes<\/h2>\n<p><strong>Figure 5.14.1<\/strong><\/p>\n<ul>\n<li><a href=\"https:\/\/unsplash.com\/s\/photos\/portraits\">Woman's Face from Iran<\/a> by <span class=\"_1JARO\"><a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@omidarmin\">Omid Armin<\/a><\/span> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><a href=\"https:\/\/unsplash.com\/photos\/7ip-IOC2yvA\">Woman Wearing Black Coat<\/a> by <a href=\"https:\/\/unsplash.com\/@pinkkilla\">Anastasiya Pavlova<\/a>\u00a0on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><span style=\"background-color: #ffffff;\"><a class=\"_2RL3a xLon9\" style=\"background-color: #ffffff;\" href=\"https:\/\/unsplash.com\/photos\/jns8BPueAgU\"><span class=\"_20NLS _1ByhS\">Dark haired man, Queretaro, M\u00e9xico<\/span><\/a> by <span class=\"_1JARO\"><a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@ldhai\">Leonel Hernandez Arteaga<\/a><\/span> on <a style=\"background-color: #ffffff;\" href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" style=\"background-color: #ffffff;\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license). &lt;not found on Unsplash&gt;<\/span><\/li>\n<li><a href=\"https:\/\/unsplash.com\/photos\/iFgRcqHznqg\">Man in White V-Neck T-Shirt (self)<\/a> by <a href=\"https:\/\/unsplash.com\/@miracletwentyone\">Joseph Gonzalez<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><a href=\"https:\/\/unsplash.com\/photos\/u3WmDyKGsrY\">Natural Redhead in Brazil<\/a> by <a href=\"https:\/\/unsplash.com\/@eugabrielsilverio\">Gabriel Silv\u00e9rio<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><a href=\"https:\/\/www.instagram.com\/p\/CBhxlohnSeJ\/\">Dark-Skinned Woman with Large White Rose<\/a> by <a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@oladimeg\">Oladimeji Oduns<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<\/ul>\n<p><strong>Figure 5.14.2<\/strong><\/p>\n<p>ABO Blood Types Per Genotype by Christine Miller is released into the <a href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.14.3<\/strong><\/p>\n<p>Three Phenotypes of Hair Based on Inheritance\/ <span style=\"font-size: 1em;\">Incomplete Dominance<\/span><span style=\"text-align: initial; font-size: 1em;\"> Hair <\/span><span style=\"text-align: initial; font-size: 1em;\">by Christine Miller is released into the <\/span><a style=\"text-align: initial; font-size: 1em;\" href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.14.4<\/strong><\/p>\n<p><a href=\"https:\/\/dr282zn36sxxg.cloudfront.net\/datastreams\/f-d%3Ad83f2c6640f7e493d532f370dbf49bb6a23ea2f578b553130dea2ad1%2BIMAGE_THUMB_POSTCARD_TINY%2BIMAGE_THUMB_POSTCARD_TINY.1\" rel=\"cc:attributionURL\">Average height \/Human Adult Height<\/a> by <a href=\"https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.13\/\">CK-12 Foundation<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.<\/p>\n<p><img src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/logo_ck12.png\" alt=\"\" \/> <span style=\"font-size: 1em;\">\u00a9<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/\">CK-12 Foundation<\/a> <span style=\"font-size: 1em;\">Licensed under\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\"><img class=\"alignnone size-full wp-image-8217\" title=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/icon_licence.png\" alt=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" \/><\/a><span style=\"font-size: 1em;\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/about\/terms-of-use\/\">Terms of Use<\/a><span style=\"font-size: 1em;\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em;\" href=\"http:\/\/www.ck12.org\/about\/attribution\/\">Attribution<\/a><\/p>\n<p><strong>Figure 5.14.5<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/katiebordner\/15010445032\" rel=\"cc:attributionURL\">Tan lines<\/a> by <a class=\"owner-name truncate\" title=\"Go to katiebordner's photostream\" href=\"https:\/\/www.flickr.com\/photos\/katiebordner\/\" data-track=\"attributionNameClick\">katiebordner<\/a>\u00a0on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <span style=\"text-align: initial; font-size: 1em;\">\u00a0<\/span><a style=\"text-align: initial; font-size: 1em;\" href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.<\/p>\n<p><strong>Figure 5.14.6<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:1911_Sickle_Cells.jpg\" rel=\"cc:attributionURL\">Sickle cell anemia<\/a> by <a href=\"https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/18-3-erythrocytes\">OpenStax College<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\/deed.en\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/3.0) \u00a9<\/p>\n<p><strong style=\"text-align: initial; font-size: 1em;\">Figure 5.14.7<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:ABO_blood_type.svg\" rel=\"cc:attributionURL\">ABO_blood_type.svg<\/a> by <a class=\"new\" title=\"User:InvictaHOG (page does not exist)\" href=\"https:\/\/commons.wikimedia.org\/w\/index.php?title=User:InvictaHOG&amp;action=edit&amp;redlink=1\">InvictaHOG<\/a> on Wikimedia Commons is in the <a style=\"text-align: initial; font-size: 1em;\" href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\">Amoeba Sisters. (2015, May 25). Incomplete dominance, codominance, polygenic traits, and epistasis! YouTube. https:\/\/www.youtube.com\/watch?v=YJHGfbW55l0<\/p>\n<p class=\"hanging-indent\">Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, April 25). Figure 18.9 Sickle cells [digital image]. In <em>Anatomy and Physiology<\/em>. OpenStax. https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/18-3-erythrocytes<\/p>\n<p class=\"hanging-indent\">Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human adult height [digital image]. In <em>CK-12 College Human Biology<\/em> (Section 5.13) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.13\/<\/p>\n<p class=\"hanging-indent\">Mayo Clinic Staff. (n.d.). Tay-Sachs disease [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/tay-sachs-disease\/symptoms-causes\/syc-20378190<\/p>\n<p class=\"hanging-indent\">Mayo Clinic Staff. (n.d.). Sickle cell anemia [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876<\/p>\n<p class=\"hanging-indent\">Teacher's Pet. (2015, January 25). Non-mendelian genetics. YouTube. https:\/\/www.youtube.com\/watch?v=-4vsio8TZrU<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4598\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4598\"><div tabindex=\"-1\"><p>Created by: CK-12\/Adapted by Christine Miller<\/p>\n<p>&nbsp;<\/p>\n<div id=\"h5p-75\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-75\" class=\"h5p-iframe\" data-content-id=\"75\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"Mendelian Inheritance\"><\/iframe><\/div>\n<\/div>\n<p><em>Figure 5.14.1 Collage of Diverse Faces.<\/em><\/p>\n<p>This collage shows some of the variation in human skin colour, which can range from very light to very dark, with every possible gradation in between.\u00a0 As you might expect, the skin color trait has a more complex genetic basis than just one gene with two alleles, which is the type of simple trait that Mendel studied in pea plants. Like skin color, many other human traits have more complicated modes of inheritance than Mendelian traits. Such modes of inheritance are called <strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2537\">non-Mendelian inheritance<\/a>,<\/strong>\u00a0and they include inheritance of\u00a0multiple allele traits, traits with codominance or incomplete dominance, and\u00a0polygenic traits, among others. All of\u00a0these modes\u00a0are described below.<\/p>\n<div>\n<h1>Multiple Allele Traits<\/h1>\n<\/div>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2709\" aria-describedby=\"caption-attachment-2709\" style=\"width: 385px\" class=\"wp-caption alignright\"><img class=\" wp-image-2709\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Blood-types-1-2.png\" alt=\"ABO Blood types\" width=\"385\" height=\"408\"><figcaption id=\"caption-attachment-2709\" class=\"wp-caption-text\"><em>Figure 5.14.2 ABO blood types per genotype.<\/em><\/figcaption><\/figure>\n<p>The majority of human genes are thought to have more than two normal versions, or\u00a0alleles. Traits controlled by a single gene with more than two alleles are called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2540\">multiple allele traits<\/a><\/strong>. An example is ABO blood type. Your blood type refers to which of certain proteins called antigens are found on your red blood cells. There are three common alleles for this trait, which are represented by the letters A, B, and O.<\/p>\n<p>As shown in the table there are six possible ABO genotypes, because the three alleles, taken two at a time, result in six possible combinations. The A and B alleles are dominant to the O allele. As a result, both AA and AO genotypes have the same phenotype, with the A antigen in their blood (type A blood). Similarly, both BB and BO genotypes have the same phenotype, with the B antigen in their blood (type B blood). No antigen is associated with the O allele, so people with the OO genotype have no antigens for ABO blood type in their blood (type O blood).<\/p>\n<div>\n<h1>Codominance<\/h1>\n<\/div>\n<p>Look at the genotype AB in the ABO blood group table. Alleles A and B for ABO blood type\u00a0are neither <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2543\">dominant<\/a> nor <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2479\">recessive<\/a> to one another. Instead, they are codominant.\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2544\">Codominance<\/a><\/strong>\u00a0occurs when two alleles for a gene are expressed equally in the phenotype of <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2474\">heterozygotes<\/a>. In the case of ABO blood type, AB heterozygotes have a unique phenotype, with both A and B antigens in their blood (type AB blood).<\/p>\n<div>\n<h1>Incomplete Dominance<\/h1>\n<\/div>\n<p>Another relationship that may occur between alleles for the same gene is\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2545\">incomplete dominance<\/a>.<\/strong>\u00a0This occurs when the dominant allele is not completely dominant. In this case, an intermediate phenotype results in heterozygotes who inherit both alleles. Generally, this happens when the two alleles for a given gene both produce\u00a0proteins, but one\u00a0protein\u00a0is not functional. As a result, the heterozygote individual produces only half the amount of normal protein as is produced by an individual who is homozygous for the normal allele.<\/p>\n<p>An example of incomplete dominance in humans is <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/tay-sachs-disease\/symptoms-causes\/syc-20378190\">Tay Sachs disease<\/a>. The normal allele for the gene in this case produces an\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_304\">enzyme<\/a>\u00a0that is responsible for breaking down\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_296\">lipids<\/a>. A defective allele for the gene results in the production of a nonfunctional enzyme. Heterozygotes who have one normal and one defective allele produce half as much functional enzyme as the normal homozygote, and this is enough for normal\u00a0development. Homozygotes who have only defective allele, however, produce only nonfunctional enzyme. This leads to the accumulation of lipids in the brain\u00a0starting\u00a0<em>in utero<\/em>, which causes significant brain damage. Most individuals with Tay Sachs disease die at a young age, typically by the age of five years.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_6216\" aria-describedby=\"caption-attachment-6216\" style=\"width: 551px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-6216 size-full\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Incomplete-dominance-hair-1-2.png\" alt=\"5.14.2 Incomplete dominance of hair.\" width=\"551\" height=\"348\"><figcaption id=\"caption-attachment-6216\" class=\"wp-caption-text\"><em>Figure 5.14.3 Three phenotypes of hair through the incomplete dominance model.<\/em><\/figcaption><\/figure>\n<p>Another good example of incomplete dominance in humans is hair type.\u00a0 There are genes for straight and curly hair, and if an individual is heterozygous, they will typically have the phenotype of wavy hair.<\/p>\n<div>\n<h1>Polygenic Traits<\/h1>\n<\/div>\n<figure id=\"attachment_2549\" aria-describedby=\"caption-attachment-2549\" style=\"width: 500px\" class=\"wp-caption alignleft\"><img class=\"size-full wp-image-2549\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Average-height-2.png\" alt=\"Like many other polygenic traits, adult height has a bell-shaped distribution.\" width=\"500\" height=\"363\"><figcaption id=\"caption-attachment-2549\" class=\"wp-caption-text\"><em>Figure 5.14.4 Human Adult Height. Like many other polygenic traits, adult height has a bell-shaped distribution.<\/em><\/figcaption><\/figure>\n<p>Many human traits are controlled by more than one gene. These traits are called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2548\">polygenic traits<\/a><\/strong>. The alleles of each gene have a minor additive effect on the phenotype. There are many possible combinations of alleles, especially if each gene has multiple alleles. Therefore, a whole continuum of phenotypes is possible.<\/p>\n<p>An example of a human polygenic trait is adult height. Several genes, each with more than one allele, contribute to this trait, so there are many possible adult heights. One adult\u2019s height might be 1.655 m (5.430 feet), and another adult\u2019s height might be 1.656 m (5.433 feet). Adult height ranges from less than 5 feet to more than 6 feet, with males, on average, being somewhat taller than females. The majority of people fall near the middle of the range of heights for their sex, as shown in <span style=\"text-align: initial;font-size: 1em\">Figure 5.14.4.<\/span><\/p>\n<div>\n<p><span style=\"font-size: 1.602em;font-weight: bold\">Environmental Effects on Phenotype<\/span><\/p>\n<\/div>\n<figure id=\"attachment_2550\" aria-describedby=\"caption-attachment-2550\" style=\"width: 236px\" class=\"wp-caption alignright\"><img class=\"wp-image-2550\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Tan-lines-2.jpg\" alt=\"Image shows a hand with a tan line where a watch had been worn.\" width=\"236\" height=\"236\"><figcaption id=\"caption-attachment-2550\" class=\"wp-caption-text\"><em>Figure 5.14.5 Due to the effects of UV radiation, the skin on the upper part of the arm is much darker in color than the\u00a0 skin that was protected by a watch strap.<\/em><\/figcaption><\/figure>\n<p>Many traits are affected by the environment, as well as by genes. This may be especially true for polygenic traits. Adult height, for example, might be negatively impacted by poor diet or childhood illness. Skin color is another polygenic trait. There is a wide range of skin colors in people worldwide. In addition to differences in genes, differences in exposure to ultraviolet (UV) light cause some variation. As shown in Figure 5.14.5, exposure to UV light darkens the skin.<\/p>\n<div>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<h1>Pleiotropy<\/h1>\n<\/div>\n<p>Some genes affect more than one phenotypic trait. This is called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2552\">pleiotropy<\/a><\/strong>. There are numerous examples of pleiotropy in humans. They generally involve important\u00a0proteins\u00a0that are needed for the normal\u00a0development\u00a0or functioning of more than one organ system. An example of\u00a0pleiotropy in humans occurs with the gene that codes for the main\u00a0protein\u00a0in collagen, a substance that helps form\u00a0bones. This protein is also important in the ears and\u00a0eyes.\u00a0Mutations\u00a0in the gene result in problems not only in bones, but also in these sensory organs, which is how the gene's pleiotropic effects were discovered.<\/p>\n<p>Another example of pleiotropy occurs with <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876\">sickle cell anemia<\/a>. This recessive genetic disorder occurs when there is a mutation in the gene that normally encodes the red blood cell <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_297\">protein<\/a> called hemoglobin. People with the disorder have two alleles for sickle cell hemoglobin, so named for the sickle shape (pictured in Figure 5.14.6) that their red blood cells take on under certain conditions (like physical exertion). The sickle-shaped red blood cells clog small blood vessels, causing multiple phenotypic effects, including stunting of physical growth, certain bone deformities, kidney failure, and strokes.<\/p>\n<figure id=\"attachment_2553\" aria-describedby=\"caption-attachment-2553\" style=\"width: 385px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2553\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Sickle-cell-anemia-2.jpg\" alt=\"Image shows the difference in morphology between a sickle cell and a normal red blood cell.\" width=\"385\" height=\"434\"><figcaption id=\"caption-attachment-2553\" class=\"wp-caption-text\"><em>Figure 5.14.6 For comparison, the sickle-shaped red blood cell on the left is shown next to several normal red blood cells.<\/em><\/figcaption><\/figure>\n<div>\n<p><span style=\"font-size: 1.602em;font-weight: bold\">Epistasis<\/span><\/p>\n<\/div>\n<p>Some genes affect the expression of other genes. This is called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2554\">epistasis<\/a><\/strong>. Epistasis is similar to dominance, except that it occurs between different genes, rather than between different alleles for the same gene.<\/p>\n<p>Albinism is an example of epistasis. A person with albinism has virtually no pigment in the skin. The condition occurs due to an entirely different gene than the genes that encode skin\u00a0color. Albinism occurs because a protein called tyrosinase, which is needed for the\u00a0production of normal skin pigment, is not produced, due to a gene\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutation<\/a>.\u00a0If an individual has the albinism\u00a0mutation, he or she will not have any skin pigment, regardless of the skin color genes that were inherited.<\/p>\n<div>\n<h3>Feature: My\u00a0Human Body<\/h3>\n<\/div>\n<p>Do you know your ABO blood type? In an emergency, knowing this valuable piece of information could possibly save your life. If you ever need a blood transfusion, it is vital that you receive blood that matches your own blood type. Why? If the blood transfused into your body contains an antigen that your own blood does not contain, antibodies in your blood\u00a0plasma\u00a0(the\u00a0liquid\u00a0part of your blood) will recognize the antigen as foreign to your body and cause a reaction called agglutination. In this reaction, the transfused red blood\u00a0cells will clump together. The agglutination reaction is serious and potentially fatal.<\/p>\n<p>Knowing the antigens and antibodies present in each of the ABO blood types will help you understand which type(s) of blood you can safely receive if you ever need a transfusion. This information is shown in Figure 5.14.7 for all of the ABO blood types. If you have blood type A, this means that your red blood cells have the A antigen and that your blood plasma contains anti-B antibodies. If you were to receive a transfusion of type B or type AB blood, both of which have the B antigen, your anti-B antibodies would attack the transfused red blood cells, causing agglutination.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2555\" aria-describedby=\"caption-attachment-2555\" style=\"width: 553px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2555\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/ABO_blood_type.svg_-2.png\" alt=\"Image shows a table of each blood type, which antigens and antibodies are present, and acceptable blood donor types.\" width=\"553\" height=\"356\"><figcaption id=\"caption-attachment-2555\" class=\"wp-caption-text\"><em>Figure 5.14.7 Antigens and antibodies in ABO blood types.<\/em><\/figcaption><\/figure>\n<div>\n<p>&nbsp;<\/p>\n<\/div>\n<p>You may have heard that people with blood type O are called \"universal donors,\" and that people with blood type AB are called universal recipients. People with type O blood have neither A nor B antigens in their blood, so if their blood is transfused into someone with a different ABO blood type, it causes no immune reaction, meaning they can donate blood to anyone. On the other hand, people with type AB blood have no anti-A or anti-B antibodies in their blood, so they can receive a transfusion of blood from anyone. Which blood type(s) can safely receive a transfusion of type AB blood, and which blood type(s) can be safely received by those with type O blood?<\/p>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.14 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2537\">Non-Mendelian inheritance<\/a> refers to the inheritance of traits that have a more complex genetic basis than one <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_529\">gene<\/a> with two <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2119\">alleles<\/a> and complete <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2478\">dominance<\/a>.<\/li>\n<li>Multiple allele traits are controlled by a single gene with more than two alleles. An example of a human multiple allele trait is ABO blood type, for which there are three common alleles: A, B, and O.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2544\">Codominance<\/a> occurs when two alleles for a gene are expressed equally in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2477\">phenotype<\/a> of heterozygotes. A human example of codominance also occurs in the ABO blood type, in which the A and B alleles are codominant.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2545\">Incomplete dominance<\/a> is the case in which the dominant allele for a gene is not completely dominant to a recessive allele for the gene, so an intermediate phenotype occurs in <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2474\">heterozygotes<\/a> who inherit both alleles. A human example of incomplete dominance is Tay Sachs disease, in which heterozygotes produce half as much functional\u00a0enzyme\u00a0as normal homozygotes.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2548\">Polygenic traits<\/a> are controlled by more than one gene, each of which has a minor additive effect on the phenotype. This results in a whole continuum of phenotypes. Examples of human polygenic traits include skin color and adult\u00a0height.<\/li>\n<li>Many traits are affected by\u00a0the environment, as well as by genes. This may be especially true for polygenic traits.\u00a0Skin color, for example, may be affected by exposure to UV light, and adult stature may be affected by diet or\u00a0childhood\u00a0disease.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2552\">Pleiotropy<\/a> refers to the situation in which a gene affects more than one phenotypic trait. A human example of pleiotropy occurs with sickle cell anemia. People who inherit two <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2479\">recessive<\/a> alleles for this disorder have abnormal red blood cells and may exhibit multiple other phenotypic effects, such as stunting of physical growth, kidney failure, and strokes.<\/li>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2554\">Epistasis<\/a> is the situation in which one gene affects the expression of other genes. An example of epistasis is albinism, in which the albinism mutation negates the expression of skin color genes.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.14 Review Questions<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>What is non-Mendelian inheritance?<\/li>\n<li>\n<div id=\"h5p-76\">\n<div class=\"h5p-content\" data-content-id=\"76\"><\/div>\n<\/div>\n<\/li>\n<li>Explain why the human ABO blood group is an example of a multiple allele trait with codominance.<\/li>\n<li>What is incomplete dominance? Give an example of this type of non-Mendelian inheritance in humans.<\/li>\n<li>Explain the genetic basis of human skin color.<\/li>\n<li>How can the human trait of adult height be influenced by the environment?<\/li>\n<li>Define pleiotropy, and give a human example.<\/li>\n<li>Compare and contrast epistasis and dominance.<\/li>\n<li>What is the difference between pleiotropy and epistasis?<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.14 Explore More<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?time_continue=1&amp;v=YJHGfbW55l0&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center\">Incomplete Dominance, Codominance, Polygenic Traits, and Epistasis!,<br \/>\nAmoeba Sisters, 2015.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=-4vsio8TZrU&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center\">Non-Mendelian Genetics, Teacher's Pet, 2015.<\/p>\n<\/div>\n<\/div>\n<h2>Attributes<\/h2>\n<p><strong>Figure 5.14.1<\/strong><\/p>\n<ul>\n<li><a href=\"https:\/\/unsplash.com\/s\/photos\/portraits\">Woman's Face from Iran<\/a> by <span class=\"_1JARO\"><a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@omidarmin\">Omid Armin<\/a><\/span> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><a href=\"https:\/\/unsplash.com\/photos\/7ip-IOC2yvA\">Woman Wearing Black Coat<\/a> by <a href=\"https:\/\/unsplash.com\/@pinkkilla\">Anastasiya Pavlova<\/a>\u00a0on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><span style=\"background-color: #ffffff\"><a class=\"_2RL3a xLon9\" style=\"background-color: #ffffff\" href=\"https:\/\/unsplash.com\/photos\/jns8BPueAgU\"><span class=\"_20NLS _1ByhS\">Dark haired man, Queretaro, M\u00e9xico<\/span><\/a> by <span class=\"_1JARO\"><a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@ldhai\">Leonel Hernandez Arteaga<\/a><\/span> on <a style=\"background-color: #ffffff\" href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" style=\"background-color: #ffffff\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license). &lt;not found on Unsplash&gt;<\/span><\/li>\n<li><a href=\"https:\/\/unsplash.com\/photos\/iFgRcqHznqg\">Man in White V-Neck T-Shirt (self)<\/a> by <a href=\"https:\/\/unsplash.com\/@miracletwentyone\">Joseph Gonzalez<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><a href=\"https:\/\/unsplash.com\/photos\/u3WmDyKGsrY\">Natural Redhead in Brazil<\/a> by <a href=\"https:\/\/unsplash.com\/@eugabrielsilverio\">Gabriel Silv\u00e9rio<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<li><a href=\"https:\/\/www.instagram.com\/p\/CBhxlohnSeJ\/\">Dark-Skinned Woman with Large White Rose<\/a> by <a class=\"_3XzpS _1ByhS _4kjHg _1O9Y0 _3l__V _1CBrG xLon9\" href=\"https:\/\/unsplash.com\/@oladimeg\">Oladimeji Oduns<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/li>\n<\/ul>\n<p><strong>Figure 5.14.2<\/strong><\/p>\n<p>ABO Blood Types Per Genotype by Christine Miller is released into the <a href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.14.3<\/strong><\/p>\n<p>Three Phenotypes of Hair Based on Inheritance\/ <span style=\"font-size: 1em\">Incomplete Dominance<\/span><span style=\"text-align: initial;font-size: 1em\"> Hair <\/span><span style=\"text-align: initial;font-size: 1em\">by Christine Miller is released into the <\/span><a style=\"text-align: initial;font-size: 1em\" href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.14.4<\/strong><\/p>\n<p><a href=\"https:\/\/dr282zn36sxxg.cloudfront.net\/datastreams\/f-d%3Ad83f2c6640f7e493d532f370dbf49bb6a23ea2f578b553130dea2ad1%2BIMAGE_THUMB_POSTCARD_TINY%2BIMAGE_THUMB_POSTCARD_TINY.1\" rel=\"cc:attributionURL\">Average height \/Human Adult Height<\/a> by <a href=\"https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.13\/\">CK-12 Foundation<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) license.<\/p>\n<p><img src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/logo_ck12.png\" alt=\"\"> <span style=\"font-size: 1em\">\u00a9<\/span><a style=\"font-size: 1em\" href=\"http:\/\/www.ck12.org\/\">CK-12 Foundation<\/a> <span style=\"font-size: 1em\">Licensed under\u00a0<\/span><a style=\"font-size: 1em\" href=\"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/\"><img class=\"alignnone size-full wp-image-8217\" title=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\" src=\"https:\/\/www.ck12info.org\/wp-content\/uploads\/2016\/05\/icon_licence.png\" alt=\"CK-12 Foundation is licensed under Creative Commons AttributionNonCommercial 3.0 Unported (CC BY-NC 3.0)\"><\/a><span style=\"font-size: 1em\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em\" href=\"http:\/\/www.ck12.org\/about\/terms-of-use\/\">Terms of Use<\/a><span style=\"font-size: 1em\">\u00a0\u2022\u00a0<\/span><a style=\"font-size: 1em\" href=\"http:\/\/www.ck12.org\/about\/attribution\/\">Attribution<\/a><\/p>\n<p><strong>Figure 5.14.5<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/katiebordner\/15010445032\" rel=\"cc:attributionURL\">Tan lines<\/a> by <a class=\"owner-name truncate\" title=\"Go to katiebordner's photostream\" href=\"https:\/\/www.flickr.com\/photos\/katiebordner\/\" data-track=\"attributionNameClick\">katiebordner<\/a>\u00a0on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <span style=\"text-align: initial;font-size: 1em\">\u00a0<\/span><a style=\"text-align: initial;font-size: 1em\" href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.<\/p>\n<p><strong>Figure 5.14.6<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:1911_Sickle_Cells.jpg\" rel=\"cc:attributionURL\">Sickle cell anemia<\/a> by <a href=\"https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/18-3-erythrocytes\">OpenStax College<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\/deed.en\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/3.0) \u00a9<\/p>\n<p><strong style=\"text-align: initial;font-size: 1em\">Figure 5.14.7<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:ABO_blood_type.svg\" rel=\"cc:attributionURL\">ABO_blood_type.svg<\/a> by <a class=\"new\" title=\"User:InvictaHOG (page does not exist)\" href=\"https:\/\/commons.wikimedia.org\/w\/index.php?title=User:InvictaHOG&amp;action=edit&amp;redlink=1\">InvictaHOG<\/a> on Wikimedia Commons is in the <a style=\"text-align: initial;font-size: 1em\" href=\"https:\/\/creativecommons.org\/publicdomain\/mark\/1.0\/\" rel=\"license\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\">Amoeba Sisters. (2015, May 25). Incomplete dominance, codominance, polygenic traits, and epistasis! YouTube. https:\/\/www.youtube.com\/watch?v=YJHGfbW55l0<\/p>\n<p class=\"hanging-indent\">Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, April 25). Figure 18.9 Sickle cells [digital image]. In <em>Anatomy and Physiology<\/em>. OpenStax. https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/18-3-erythrocytes<\/p>\n<p class=\"hanging-indent\">Brainard, J\/ CK-12 Foundation. (2016). Figure 2 Human adult height [digital image]. In <em>CK-12 College Human Biology<\/em> (Section 5.13) [online Flexbook]. CK12.org. https:\/\/www.ck12.org\/book\/ck-12-college-human-biology\/section\/5.13\/<\/p>\n<p class=\"hanging-indent\">Mayo Clinic Staff. (n.d.). Tay-Sachs disease [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/tay-sachs-disease\/symptoms-causes\/syc-20378190<\/p>\n<p class=\"hanging-indent\">Mayo Clinic Staff. (n.d.). Sickle cell anemia [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876<\/p>\n<p class=\"hanging-indent\">Teacher's Pet. (2015, January 25). Non-mendelian genetics. YouTube. https:\/\/www.youtube.com\/watch?v=-4vsio8TZrU<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4599\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4599\"><div tabindex=\"-1\"><p>Image shows a photo of a young child exhibiting Polydactyly- a condition in which a person is born with extra fingers or toes.  In this photo, the child has an extra pinky finger on each hand.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_2989\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_2989\"><div tabindex=\"-1\"><p>Created by CK-12 Foundation\/Adapted by Christine Miller<\/p>\n<figure id=\"attachment_1188\" aria-describedby=\"caption-attachment-1188\" style=\"width: 332px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-1180\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/US_Marines_butterfly_stroke.jpg\" alt=\"13.3.1 Butterfly Stroke\" width=\"332\" height=\"500\"><figcaption id=\"caption-attachment-1188\" class=\"wp-caption-text\"><em>Figure 13.3.1 How long can you hold your breath?<\/em><\/figcaption><\/figure>\n<div>\n<h1>Doing the \u2018Fly<\/h1>\n<\/div>\n<p>The swimmer in the Figure 13.3.1 photo is doing the butterfly stroke, a swimming style that requires the swimmer to carefully control his breathing so it is coordinated with his swimming movements. Breathing is the process of moving air into and out of the lungs, which are the organs in which gas exchange takes place between the atmosphere and the body. Breathing is also called <strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4287\">ventilation<\/a>,<\/strong>\u00a0and it is one of two parts of the life-sustaining process of respiration. The other part\u00a0is\u00a0gas exchange. Before you can understand how breathing is controlled, you need to know how breathing occurs.<\/p>\n<div>\n<h1>How Breathing Occurs<\/h1>\n<\/div>\n<p>Breathing is a two-step process that includes drawing air into the lungs, or inhaling, and letting air out of the lungs, or exhaling. Both processes are illustrated in Figure 13.3.2.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_1188\" aria-describedby=\"caption-attachment-1188\" style=\"width: 632px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-1182\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Inhale-Exhale-by-Siyavula-Education-on-flickr.jpg\" alt=\"13.3.2 Inhalation and Exhalation\" width=\"632\" height=\"465\"><figcaption id=\"caption-attachment-1188\" class=\"wp-caption-text\"><em>Figure 13.3.2 Breathing depends mainly on repeated contractions of the diaphragm.<\/em><\/figcaption><\/figure>\n<h2>Inhaling<\/h2>\n<p>Inhaling is an active process that results mainly from contraction of a muscle called the diaphragm, shown in Figure 13.3.2. The <strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4292\">diaphragm<\/a> <\/strong>is a large, dome-shaped muscle below the lungs that separates the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2925\">thoracic<\/a> (chest) and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2475\">abdominal<\/a> cavities. When the diaphragm contracts it moves down causing the thoracic cavity to expand, and the contents of the abdomen\u00a0<span style=\"font-size: 1em\">to be pushe<\/span><span style=\"text-align: initial;font-size: 1em\">d downward. Other muscles \u2014 such as intercostal muscles between the ribs \u2014 also contribute to the process of <\/span><span style=\"text-align: initial;font-size: 1em\"><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4325\">inhalation<\/a><\/span><span style=\"text-align: initial;font-size: 1em\">, especially when inhalation is forced, as when taking a deep breath. These muscles help increase thoracic volume by expanding the ribs outward. The increase in thoracic volume creates a decrease in thoracic air pressure.\u00a0 With the chest expanded, there is lower air pressure inside the lungs than outside the body, so outside air flows into the lungs via the respiratory tract according the the pressure gradient (high pressure flows to lower pressure).<\/span><\/p>\n<h2>Exhaling<\/h2>\n<p>Exhaling involves the opposite series of events. The diaphragm relaxes, so it moves upward and decreases the volume of the thorax. Air pressure inside the lungs increases, so it is higher than the air pressure outside the lungs. <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4326\">Exhalation<\/a>, unlike inhalation, is typically a passive process that occurs mainly due to the elasticity of the lungs. With the change in air pressure, the lungs contract to their pre-inflated size, forcing out the air they contain in the process. Air flows out of the lungs, similar to the way air rushes out of a balloon when it is released. If exhalation is forced, internal intercostal and abdominal muscles may help move the air out of the lungs.<\/p>\n<div>\n<h1>Control of Breathing<\/h1>\n<\/div>\n<p>Breathing is one of the few vital bodily functions that can be controlled consciously, as well as unconsciously. Think about using your breath to blow up a balloon. You take a long, deep breath, and then you exhale the air as forcibly as you can into the balloon. Both the inhalation and exhalation are consciously controlled.<\/p>\n<h2>Conscious Control of Breathing<\/h2>\n<p>You can control your breathing by holding your breath, slowing your breathing, or\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4327\">hyperventilating<\/a>,<\/strong> which is breathing more quickly and shallowly than necessary. You can also exhale or inhale more forcefully or deeply than usual. Conscious control of breathing is common in many activities besides blowing up balloons, including swimming, speech training, singing, playing many different musical instruments (Figure 13.3.3), and doing yoga, to name just a few.<\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_1188\" aria-describedby=\"caption-attachment-1188\" style=\"width: 400px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-4328\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Trumpet-by-morgan-petroski-ZCX1Nyok66c-unsplash-scaled-1.jpg\" alt=\"13.3.3 Conscious Control of Breathing\" width=\"400\" height=\"267\"><figcaption id=\"caption-attachment-1188\" class=\"wp-caption-text\"><em>Figure 13.3.3 Playing the trumpet is hard work. Exhaled air must be forced through the lips hard enough to create a vibrating column of air inside the instrument.<\/em><\/figcaption><\/figure>\n<p>There are limits on the conscious control of breathing. For example, it is not possible for a healthy person to voluntarily stop breathing indefinitely. Before long, there is an irrepressible urge to breathe. If you were able to stop breathing for a long enough time, you would lose consciousness. The same thing would happen if you were to hyperventilate for too long. Once you lose consciousness so you can no longer exert conscious control over your breathing, <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3005\">involuntary<\/a> control of breathing takes over.<\/p>\n<h2>Unconscious Control of Breathing<\/h2>\n<p>Unconscious breathing is controlled by\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4329\">respiratory centers<\/a><\/strong> in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3075\">medulla<\/a> and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3076\">pons<\/a> of the brainstem (see Figure 13.3.4). The respiratory centers automatically and continuously regulate the rate of breathing based on the body\u2019s needs. These are determined mainly by blood acidity, or <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4330\">pH<\/a>. When you exercise, for example, carbon dioxide levels increase in the blood, because of increased cellular respiration by muscle cells. The carbon dioxide reacts with water in the blood to produce carbonic acid, making the blood more acidic, so pH falls. The drop in pH is detected by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3128\">chemoreceptor<span style=\"font-size: 1em\">s<\/span><span style=\"text-align: initial;font-size: 1em\"><\/a><\/span><span style=\"text-align: initial;font-size: 1em\">\u00a0in the medulla. Blood levels of oxygen and carbon dioxide, in addition to pH, are also detected by chemoreceptors in major arteries, which send the \u201cdata\u201d to the respiratory centers. The latter respond by sending\u00a0nerve impulses\u00a0to the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4292\">diaphragm<\/a>, \u201ctelling\u201d it to contract more quickly so the rate of breathing speeds up. With faster breathing, more carbon dioxide is released into the air from the blood, and blood pH returns to the normal range.<\/span><\/p>\n<figure id=\"attachment_1188\" aria-describedby=\"caption-attachment-1188\" style=\"width: 521px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-1187\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Respiratory_Centers_of_the_Brain.jpg\" alt=\"13.3.4 Nervous Control of Respiration\" width=\"521\" height=\"672\"><figcaption id=\"caption-attachment-1188\" class=\"wp-caption-text\"><em>Figure 13.3.4 Clusters of cells in the pons and medulla of the brain stem are the respiratory centers of the brain that have involuntary control over breathing.<\/em><\/figcaption><\/figure>\n<p>The opposite events occur when the level of carbon dioxide in the blood becomes too low and blood pH rises. This may occur with involuntary hyperventilation, which can happen in panic attacks, episodes of severe pain, asthma attacks, and many other situations. When you hyperventilate, you blow off a lot of carbon dioxide, leading to a drop in blood levels of carbon dioxide. The blood becomes more basic (alkaline), causing its pH to rise.<\/p>\n<div>\n<h1>Nasal vs. Mouth Breathing<\/h1>\n<\/div>\n<p>Nasal breathing is breathing through the nose rather than the mouth, and it is generally considered to be superior to mouth breathing. The hair-lined nasal passages do a better job of filtering particles out of the air before it moves deeper into the respiratory tract. The nasal passages are also better at warming and moistening the air, so nasal breathing is especially advantageous in the winter when the air is cold and dry. In addition, the smaller diameter of the nasal passages creates greater pressure in the lungs during exhalation. This slows the emptying of the lungs, giving them more time to extract oxygen from the air.<\/p>\n<div>\n<h1>Feature: Myth vs. Reality<\/h1>\n<\/div>\n<p><strong>Drowning<\/strong> is defined as respiratory impairment from being in or under a liquid. It is further classified according to its outcome into: death, ongoing health problems, or no ongoing health problems (full recovery). Four hundred Canadians die annually from drowning, and drowning is one of the leading causes of death in children under the age of five. There are some potentially dangerous myths about drowning, and knowing what they are might save your life or the life of a loved one, especially a child.<\/p>\n<table class=\"grid\" style=\"border-collapse: collapse;width: 100%\" border=\"0\">\n<tbody>\n<tr>\n<th scope=\"col\"><span style=\"color: #ff0000\">Myth<\/span><\/th>\n<th scope=\"col\"><span style=\"color: #008000\">Reality<\/span><\/th>\n<\/tr>\n<tr>\n<td><em>\"People drown when they aspirate water into their lungs.\"<\/em><\/td>\n<td>Generally, in the early stages of drowning, very little\u00a0water\u00a0enters the lungs. A small amount of water entering the trachea causes a muscular spasm in the larynx that seals the airway and prevents the passage of water into the lungs. This spasm is likely to last until unconsciousness occurs.<\/td>\n<\/tr>\n<tr>\n<td><em>\"You can tell when someone is drowning because they will shout for help and wave their arms to attract attention.\"<\/em><\/td>\n<td>The muscular spasm that seals the airway prevents the passage of air, as well as water, so a person who is drowning is unable to shout or call for help. In addition, instinctive reactions that occur in the final minute or so before a drowning person sinks under the water may look similar to calm, safe behavior. The head is likely to be low in the water, tilted back, with the mouth open. The person may have uncontrolled movements of the arms and legs, but they are unlikely to be visible above the water.<\/td>\n<\/tr>\n<tr>\n<td><em>\"It is too late to save a person who is unconscious in the water.\"<\/em><\/td>\n<td>An unconscious person rescued with an airway still sealed from the muscular spasm of the larynx stands a good chance of full recovery if they start receiving CPR within minutes. Without water in the lungs, CPR is much more effective. Even if cardiac arrest has occurred so the\u00a0heart\u00a0is no longer beating, there is still a chance of recovery.\u00a0The longer the brain goes without oxygen, however, the more likely brain\u00a0cells\u00a0are to\u00a0die. Brain death is likely after about six minutes without oxygen, except in exceptional circumstances, such as young people drowning in very cold water. There are examples of children surviving, apparently without lasting ill effects, for as long as an hour in cold water.\u00a0Rescuers retrieving a child from cold water should attempt resuscitation even after a protracted period of immersion.<\/td>\n<\/tr>\n<tr>\n<td><em>\"If someone is drowning, you should start administering CPR immediately, even before you try to get the person out of the water.\"<\/em><\/td>\n<td>Removing a drowning person from the water is the first priority, because CPR is ineffective in the water. The goal should be to bring the person to stable ground as quickly as possible and\u00a0then\u00a0to start CPR.<\/td>\n<\/tr>\n<tr>\n<td><em>\"You are unlikely to drown unless you are in water over your head.\"<\/em><\/td>\n<td>Depending on circumstances, people have drowned in as little as 30 mm (about 1 \u00bd in.) of water. Inebriated people or those under the influence of drugs, for example, have been known to have drowned in puddles. Hundreds of children have drowned in the water in toilets, bathtubs, basins, showers, pails, and buckets (see Figure 13.3.5).<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<figure id=\"attachment_1188\" aria-describedby=\"caption-attachment-1188\" style=\"width: 400px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-1188\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Lily-Ava-in-the-Kiddie-Pool-by-mob-mob-on-flickr.jpg\" alt=\"13.3.5 Supervision of Children Near Water\" width=\"400\" height=\"300\"><figcaption id=\"caption-attachment-1188\" class=\"wp-caption-text\"><em>Figure 13.3.5 Young children should never be left unattended around sources of water that pose a risk of drowning, including water in toilets, bathtubs, and buckets. Here, there are clearly two adults supervising within arm's reach.<\/em><\/figcaption><\/figure>\n<div>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">13.3 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li>Breathing, or <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4287\">ventilation<\/a>, is the two-step process of drawing air into the lungs (inhaling) and letting air out of the lungs (exhaling). <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4325\">Inhalation<\/a> is an active process that results mainly from contraction of a muscle called the diaphragm. <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4326\">Exhalation<\/a> is typically a passive process that occurs mainly due to the elasticity of the lungs when the diaphragm relaxes.<\/li>\n<li>Breathing is one of the few vital bodily functions that can be controlled consciously, as well as unconsciously. Conscious control of breathing is common in many activities, including swimming and singing. There are limits on the conscious control of breathing, however. If you try to hold your breath, for example, you will soon have an irrepressible urge to breathe.<\/li>\n<li>Unconscious breathing is controlled by respiratory centers in the <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3075\">medulla<\/a> and <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_3076\">pons<\/a> of the brainstem. They respond to variations in blood <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_4330\">pH<\/a> by either increasing or decreasing the rate of breathing as needed to return the pH level to the normal range.<\/li>\n<li>Nasal breathing is generally considered to be superior to mouth breathing because it does a better job of filtering, warming, and moistening incoming air. It also results in slower emptying of the lungs, which allows more oxygen to be extracted from the air.<\/li>\n<li>Drowning is a major cause of death in Canada, in particular in children under the age of five.\u00a0 It is important to supervise small children when they are playing in, around, or with water.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h2 class=\"textbox__title\"><span style=\"color: #ffffff\">13.3 Review Questions<\/span><\/h2>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>Define breathing.<\/li>\n<li>\n<div id=\"h5p-240\">\n<div class=\"h5p-iframe-wrapper\"><iframe id=\"h5p-iframe-240\" class=\"h5p-iframe\" data-content-id=\"240\" style=\"height:1px\" src=\"about:blank\" frameBorder=\"0\" scrolling=\"no\" title=\"13.3 Quiz\"><\/iframe><\/div>\n<\/div>\n<\/li>\n<li>Give examples of activities in which breathing is consciously controlled.<\/li>\n<li>Explain how unconscious breathing is controlled.<\/li>\n<li>Young children sometimes threaten to hold their breath until they get something they want. Why is this an idle threat?<\/li>\n<li>Why is nasal breathing generally considered superior to mouth breathing?<\/li>\n<li>Give one example of a situation that would cause blood pH to rise excessively. Explain why this occurs.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">13.3 Explore More<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?v=Kl4cU9sG_08<\/p>\n<p style=\"text-align: center\">How breathing works - Nirvair Kaur, TED-Ed, 2012.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=yDtKBXOEsoM<\/p>\n<p style=\"text-align: center\">How do ventilators work? - Alex Gendler, TED-Ed, 2020.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=XFnGhrC_3Gs&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center\">How I held my breath for 17 minutes | David Blaine, TED, 2010.<\/p>\n<p>https:\/\/www.youtube.com\/watch?v=Vca6DyFqt4c&amp;feature=emb_logo<\/p>\n<p style=\"text-align: center\">The Ultimate Relaxation Technique: How To Practice Diaphragmatic Breathing For Beginners, Kai Simon, 2015.<\/p>\n<\/div>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<h2>Attributions<\/h2>\n<p><strong>Figure 13.3.1<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:US_Marines_butterfly_stroke.jpg\" rel=\"cc:attributionURL\">US_Marines_butterfly_stroke<\/a> by Cpl. Jasper Schwartz from <a href=\"https:\/\/www.marines.mil\/Photos\/\">U.S. Marine Corps<\/a> on Wikimedia Commons is in the <a class=\"extiw\" title=\"w:public domain\" href=\"https:\/\/en.wikipedia.org\/wiki\/public_domain\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 13.3.2<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/121935927@N06\/13579206934\" rel=\"cc:attributionURL\">Inhale Exhale\/Breathing cycle<\/a> by\u00a0<a href=\"https:\/\/www.flickr.com\/photos\/121935927@N06\/\" rel=\"dc:creator\">Siyavula Education<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0\/) license.<\/p>\n<p><strong>Figure 13.3.3<\/strong><\/p>\n<p><a href=\"https:\/\/unsplash.com\/photos\/ZCX1Nyok66c\" rel=\"cc:attributionURL\">Trumpet\/ Frenchmen Street<\/a> [photo] by <a href=\"https:\/\/unsplash.com\/@morgpetphoto\">Morgan Petroski<\/a> on <a href=\"http:\/\/unsplash.com\">Unsplash<\/a> is used under the <a href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/p>\n<p><strong>Figure 13.3.4<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:2327_Respiratory_Centers_of_the_Brain.jpg\" rel=\"cc:attributionURL\">Respiratory_Centers_of_the_Brain<\/a>\u00a0by <a href=\"https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/22-3-the-process-of-breathing\">OpenStax College<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\" rel=\"license\">CC BY 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/3.0) license.<\/p>\n<p><strong>Figure 13.3.5<\/strong><\/p>\n<p><a href=\"https:\/\/www.flickr.com\/photos\/biblicone\/3824666787\/in\/photolist-6PYqbP-2rx2G4-k1BRwh-k1yTf4-k1AWPJ-k1ATvQ-k1AtQH-k1Ba4y-k1Aq6Z-k1zokP-k1BJEb-k1BDRd-k1AKWm-k1AkVV-k1BVF9-34B2Wq-9R7dYz-8LpXzH-db1AzK-88hqku-cuih1d-8dDyrC-552bDq-8Lt271-ah3o62-ah3mVT-ah3vvn-ah3rwZ-52JEwW-6WBC6J-iN49k-6WBxTQ-fMsxQ-6WBBP3-6Wxxzp-6WxBUr-nHMBGd-6WBwR5-ntkqz2-afw3yG-2xYzte-4EwN9E-5i7YUV-5i7YQi-5rNPvg-cpVzUU-Ytmnt-4NHgLz-4TeKZr-pS5BjJ\" rel=\"cc:attributionURL\">Lily &amp; Ava in the Kiddie Pool<\/a> by\u00a0<a href=\"https:\/\/www.flickr.com\/photos\/biblicone\/\" rel=\"dc:creator\">mob mob<\/a> on <a href=\"http:\/\/flickr.com\">Flickr<\/a> is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/\" rel=\"license\">CC BY-NC 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/) license.<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\">Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure 22.20 Respiratory centers of the brain [digital image].\u00a0 In <em>Anatomy and Physiology<\/em> (Section 22.3). OpenStax. https:\/\/openstax.org\/books\/anatomy-and-physiology\/pages\/22-3-the-process-of-breathing<\/p>\n<p class=\"hanging-indent\">Kai Simon. (2015, January 11). The ultimate relaxation technique: How to practice diaphragmatic breathing for beginners. YouTube. https:\/\/www.youtube.com\/watch?v=Vca6DyFqt4c&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED. (2010, January 19). How I held my breath for 17 minutes | David Blaine. YouTube. https:\/\/www.youtube.com\/watch?v=XFnGhrC_3Gs&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED-Ed. (2012, October 4). How breathing works - Nirvair Kaur. YouTube. https:\/\/www.youtube.com\/watch?v=Kl4cU9sG_08&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED-Ed. (2020, May 21). How do ventilators work? - Alex Gendler. YouTube. https:\/\/www.youtube.com\/watch?v=yDtKBXOEsoM&amp;feature=youtu.be<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4600\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4600\"><div tabindex=\"-1\"><\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4602\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4602\"><div tabindex=\"-1\"><p>Image shows a medical professional blotting a blood sample from a small prick on an infant's heel onto special filter paper for the purposes of screening for PKU.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5743\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5743\"><div tabindex=\"-1\"><p>A community of livings things interrelated with their physical and chemical environment.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5985\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5985\"><div tabindex=\"-1\"><p>The body system which acts as a chemical messenger system comprising feedback loops of the hormones released by internal glands of an organism directly into the circulatory system, regulating distant target organs. In humans, the major endocrine glands are the thyroid gland and the adrenal glands.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5933\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5933\"><div tabindex=\"-1\"><p>One of two main divisions of the nervous system that includes the brain and spinal cord.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4553\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4553\"><div tabindex=\"-1\"><p>Image shows components of DNA regulating transcription.  One a section of DNA regulating a specific gene, upstream, there is an enhancer, promoter sequences, and the TATA box.  These preceded the coding strand section of DNA which includes introns and exons.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_2702\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_2702\"><div tabindex=\"-1\"><p>Structures containing neuronal cell bodies in the peripheral nervous system.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4552\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4552\"><div tabindex=\"-1\"><\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4560\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4560\"><div tabindex=\"-1\"><p>Image shows a table with illustrations showing the variation that exists within pea plans.  The peas can either be smooth or wrinkled.  The peas can either be green or yellow.  The flowers could either be white or purple.  The pods could either be smooth or constricted.  The pods could either be yellow or green.  The plants could either be short or tall.  The plants could either end with flowers or end with foliage.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4605\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4605\"><div tabindex=\"-1\"><p>&nbsp;<\/p>\n<figure id=\"attachment_2561\" aria-describedby=\"caption-attachment-2561\" style=\"width: 564px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2561\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Polydactyly_ECS-2.jpg\" alt=\"Example of polydactyly\" width=\"564\" height=\"370\" \/><figcaption id=\"caption-attachment-2561\" class=\"wp-caption-text\"><em>Figure 5.15.1 Bilateral polydactyly with short fingers in a baby with Ellis-van Creveld syndrome.<\/em><\/figcaption><\/figure>\n<h1>Polly Who?<\/h1>\n<p>Each hand in the Figure 5.15.1 photo has an extra pinky finger. This is a condition called <a href=\"https:\/\/www.healthline.com\/health\/polydactyly\">polydactyly<\/a>, which literally means \"many digits.\" People with polydactyly may have extra fingers and\/or toes, and the condition may affect just one hand or foot, or both hands and feet. Polydactyly is often genetic in origin and may be part of a genetic disorder associated with other abnormalities.<\/p>\n<div>\n<h1>What Are Genetic Disorders?<\/h1>\n<\/div>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2562\">Genetic disorders<\/a><\/strong>\u00a0are diseases, syndromes, or other abnormal conditions caused by\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutations<\/a>\u00a0in one or more genes, or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2563\">congenital disorders<\/a><\/strong>,\u00a0a category that includes\u00a0any disorder present at birth, regardless of cause. Some congenital disorders are not caused by genetic mutations or chromosomal alterations. Instead, they are caused by problems that arise during embryonic or fetal\u00a0development, or during the process of birth. An example of a nongenetic congenital disorder is <a href=\"https:\/\/www.cdc.gov\/ncbddd\/fasd\/facts.html\">fetal alcohol syndrome<\/a>. This is a collection of birth defects, including facial anomalies and intellectual disability, caused by maternal alcohol consumption during\u00a0pregnancy.<\/p>\n<div>\n<h1>Genetic Disorders Caused by Mutations<\/h1>\n<\/div>\n<p>Table 5.15.1 lists several genetic disorders caused by mutations in just one gene. Some of the disorders are caused by mutations in autosomal genes, others by mutations in X-linked genes. Which disorders would you expect to be more common in males than females?<\/p>\n<table style=\"border-collapse: collapse; width: 100%;\" border=\"0\">\n<caption>Table 5.15.1: Types of Genetic Disorders, Their Effects and Mode of Inheritance<\/caption>\n<tbody>\n<tr>\n<th style=\"width: 23.6865%;\" scope=\"col\">Genetic Disorder<\/th>\n<th style=\"width: 24.2894%;\" scope=\"col\">Direct Effect of\u00a0Mutation<\/th>\n<th style=\"width: 40.2239%;\" scope=\"col\">Signs and Symptoms of the Disorder<\/th>\n<th style=\"width: 11.714%;\" scope=\"col\">Mode of Inheritance<\/th>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%;\"><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/marfan-syndrome\/symptoms-causes\/syc-20350782\">Marfan syndrome<\/a><\/td>\n<td style=\"width: 24.2894%;\">Defective protein in connective tissue<\/td>\n<td style=\"width: 40.2239%;\">Heart and bone defects and unusually long, slender limbs and fingers<\/td>\n<td style=\"width: 11.714%;\">Autosomal dominant<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%;\"><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876\">Sickle cell anemia<\/a><\/td>\n<td style=\"width: 24.2894%;\">Abnormal hemoglobin protein in red blood cells<\/td>\n<td style=\"width: 40.2239%;\">Sickle-shaped red blood cells that clog tiny blood vessels, causing pain and damaging organs and joints<\/td>\n<td style=\"width: 11.714%;\">Autosomal recessive<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%;\"><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/6735\/hypophosphatemic-rickets\">Hypophosphatemic\u00a0 (Vitamin D-resistant) rickets<\/a><\/td>\n<td style=\"width: 24.2894%;\">Lack of a substance needed for bones to absorb minerals<\/td>\n<td style=\"width: 40.2239%;\">Soft bones that easily become deformed, leading to bowed legs and other skeletal deformities<\/td>\n<td style=\"width: 11.714%;\">X-linked dominant<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%;\"><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/hemophilia\/symptoms-causes\/syc-20373327\">Hemophilia<\/a> A<\/td>\n<td style=\"width: 24.2894%;\">Reduced activity of a protein needed for blood clotting<\/td>\n<td style=\"width: 40.2239%;\">Internal and external bleeding that occurs easily and is difficult to control<\/td>\n<td style=\"width: 11.714%;\">X-linked recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>Very few genetic disorders are controlled by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5973\">dominant<\/a> mutant\u00a0[pHypophosphatemicb_glossary id=\"2119\"]alleles[\/pb_glossary]. A dominant allele is expressed in every individual who inherits even one copy of it. If it causes a serious disorder, affected people may die young and fail to reproduce. Therefore, the mutant dominant allele is likely to die out of a\u00a0population.<\/p>\n<p>A recessive mutant allele \u2014 such as the allele that causes <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876\">sickle cell anemia<\/a> or <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/cystic-fibrosis\/symptoms-causes\/syc-20353700\">cystic fibrosis<\/a> \u2014 is not expressed in people who inherit just\u00a0<em>one <\/em>copy of it. These people are called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2564\">carriers<\/a><\/strong>. They do not have the disorder themselves, but they carry the mutant allele and their offspring can inherit it. Thus, the allele is likely to pass on to the next generation, rather than die out.<\/p>\n<div>\n<h1>Genetic Disorders Caused by Chromosomal Alterations<\/h1>\n<\/div>\n<p>Mistakes may occur during\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2486\">meiosis<\/a>\u00a0that result in\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2565\">nondisjunction<\/a><\/strong>. This is the failure of replicated\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5619\">chromosomes<\/a>\u00a0to separate properly during\u00a0meiosis. Some of the resulting <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_6023\">gametes<\/a> will be missing all or part of a chromosome, while others will have an extra copy of all or part of the chromosome. If such gametes are fertilized and form <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2471\">zygotes<\/a>, they usually do not survive. If they do survive, the individuals are likely to have serious genetic disorders.<\/p>\n<p>Table 5.15.2 lists several genetic disorders that are caused by abnormal numbers of chromosomes. Most chromosomal disorders involve the X chromosome. The X and Y chromosomes are the only chromosome pair in which the two chromosomes are very different in size. This explains why nondisjunction tends to occur more frequently in sex chromosomes than in autosomes.<\/p>\n<table class=\"grid\" style=\"width: 100%; height: 251px;\">\n<caption>Table 5.15.2: Genetic Disorders, Their Genotypes, and Phenotypic Effects<\/caption>\n<thead>\n<tr>\n<th>Genetic Disorder<\/th>\n<th>Genotype<\/th>\n<th>Phenotypic Effects<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/down-syndrome\/diagnosis-treatment\/drc-20355983\">Down syndrome<\/a><\/td>\n<td>Extra copy (complete or partial) of chromosome 21 (see Figure 5.15.3)<\/td>\n<td>Developmental delays, distinctive facial appearance, and other abnormalities (see Figure 5.15.2)<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/turner-syndrome\/symptoms-causes\/syc-20360782\">Turner syndrome<\/a><\/td>\n<td>One X chromosome but no other sex chromosome (XO)<\/td>\n<td>Female with short height and infertility(inability to reproduce)<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/triple-x-syndrome\/symptoms-causes\/syc-20350977\">Triple X syndrome<\/a><\/td>\n<td>Three X chromosomes (XXX)<\/td>\n<td>Female with mild developmental delays and menstrual irregularities<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/klinefelter-syndrome\/symptoms-causes\/syc-20353949\">Klinefelter syndrome<\/a><\/td>\n<td>One Y chromosome and two or more X chromosomes (XXY, XXXY)<\/td>\n<td>Male with problems in sexual development and reduced levels of the male hormone testosterone<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<table style=\"border-collapse: collapse; width: 95.1253%; height: 448px;\" border=\"0\">\n<tbody>\n<tr style=\"height: 428px;\">\n<td style=\"width: 50%; height: 428px;\">\n<figure id=\"attachment_2567\" aria-describedby=\"caption-attachment-2567\" style=\"width: 638px\" class=\"wp-caption alignnone\"><img class=\"wp-image-2567\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Downs-in-the-Family-photo-by-nathan-anderson-GM5Yn5XRVqA-unsplash-scaled-3.jpg\" alt=\"Image shows a family comprised of a woman (mom), a young adult with Down Syndrome and a man (dad).\" width=\"638\" height=\"435\" \/><figcaption id=\"caption-attachment-2567\" class=\"wp-caption-text\"><em>Figure 5.15.2 Family with down syndrome child.<\/em><\/figcaption><\/figure>\n<\/td>\n<td style=\"width: 91.5728%; height: 428px;\">\n<figure id=\"attachment_2566\" aria-describedby=\"caption-attachment-2566\" style=\"width: 407px\" class=\"wp-caption alignnone\"><img class=\"wp-image-2566\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Down_Syndrome_Karyotype-2.png\" alt=\"Down Syndrome Karyotype\" width=\"407\" height=\"438\" \/><figcaption id=\"caption-attachment-2566\" class=\"wp-caption-text\"><em>Figure 5.15.3 Trisomy 21 (Down Syndrome) Karyotype.<\/em><\/figcaption><\/figure>\n<\/td>\n<\/tr>\n<tr style=\"height: 76px;\">\n<td style=\"width: 50%; height: 20px;\"><\/td>\n<td style=\"width: 91.5728%; height: 20px;\"><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><span style=\"font-size: 16px;\">A karyotype is a picture of a cell's chromosomes. In Figure 5.15.3, note the extra chromosome 21. In Figure 5.15.2, a young man with Down syndrome exhibits the characteristic facial appearance.<\/span><\/p>\n<h1>Diagnosing and Treating Genetic Disorders<\/h1>\n<p>A genetic disorder that is caused by a\u00a0mutation\u00a0can be inherited. Therefore, people with a genetic disorder in their family may be concerned about having children with the disorder. A genetic counselor can help them understand the risks of their children being affected. If they decide to have children, they may be advised to have prenatal (\u201cbefore birth\u201d) testing to see if the fetus has any genetic abnormalities. One method of prenatal testing is <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2570\">amniocentesis<\/a>. In this procedure, a few fetal\u00a0cells\u00a0are extracted from the fluid surrounding the fetus\u00a0<em>in utero<\/em>, and the fetal chromosomes are examined. Down syndrome and other chromosomal alterations can be detected in this way.<\/p>\n<figure id=\"attachment_2571\" aria-describedby=\"caption-attachment-2571\" style=\"width: 412px\" class=\"wp-caption alignleft\"><img class=\" wp-image-2571\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Phenylketonuria_testing-2.jpg\" alt=\"Image shows a how a PKU test is conducted.\" width=\"412\" height=\"228\" \/><figcaption id=\"caption-attachment-2571\" class=\"wp-caption-text\"><em>Figure 5.15.3 The PKU test is conducted shortly after birth in order to determine if an infant has higher than normal levels of phenylalanine.<\/em><\/figcaption><\/figure>\n<p>The symptoms of genetic disorders can sometimes be treated or prevented. In the genetic disorder called <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302\">phenylketonuria<\/a> (PKU), for example, the amino acid phenylalanine builds up in the body to harmful levels. PKU is caused by a <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutation<\/a> in a gene that normally codes for an <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5757\">enzyme<\/a> needed to break down phenylalanine. When a person with PKU consumes foods high in phenylalanine (including many high-protein foods), the buildup of PKU can lead to serious health problems. In infants and young children, the build-up of phenylalanine can cause intellectual disability and delayed development, along with other serious problems. All babies in Canada and the United States and many other countries are screened for PKU soon after birth.\u00a0 As shown in Figure 5.15.3, the PKU test involves collecting a small amount of blood from the infant, typically from the heel using a small lancet.\u00a0 The blood is collected on a special type of filter paper and then brought to a laboratory for analysis. If PKU is diagnosed, the infant can be fed a low-phenylalanine diet, which prevents the buildup of phenylalanine and the health problems associated with it, including intellectual disability. As long as a low-phenylalanine diet is followed throughout life, most symptoms of the disorder can be prevented.<\/p>\n<div>\n<h1>Curing Genetic Disorders<\/h1>\n<\/div>\n<p>Cures for genetic disorders are still in the early stages of development. One potential cure is\u00a0gene therapy.\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2573\">Gene therapy<\/a><\/strong>\u00a0is an experimental technique that uses genes to treat or prevent disease. In gene therapy, normal <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5521\">genes<\/a> are introduced into <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5665\">cells<\/a> to compensate for abnormal genes. If a mutated gene causes a necessary <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5813\">protein<\/a> to be nonfunctional or missing, gene therapy may be able to introduce a normal copy of the gene to produce the needed functional protein.<\/p>\n<p>A gene inserted directly into a cell usually does not function, so a carrier called a\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2574\"><strong>vector<\/strong> <\/a>is genetically engineered to deliver the gene (see <em>Figure <em style=\"font-size: 1em;\">5.15.<\/em>4<\/em> <span style=\"text-align: initial; font-size: 1em;\">illustration). Certain viruses, such as adenoviruses, are often used as vectors. They can deliver the new gene by infecting cells. The viruses are modified so they do not cause disease when used in people. If the treatment is successful, the new gene delivered by the vector will allow the synthesis of a functioning protein. Researchers still must overcome many technical challenges before gene therapy will be a practical approach to curing genetic disorders.<\/span><\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2575\" aria-describedby=\"caption-attachment-2575\" style=\"width: 559px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2575\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Gene_therapy-2.jpg\" alt=\"Image shows how adenoviruses are used in gene therapy.\" width=\"559\" height=\"419\" \/><figcaption id=\"caption-attachment-2575\" class=\"wp-caption-text\"><em>Figure 5.15.4 Gene therapy is an experimental technique for curing a genetic disorder by changing the patient's genetic makeup. Typically, gene therapy involves introducing a normal copy of a mutant gene into the patient's cells.<\/em><\/figcaption><\/figure>\n<div><\/div>\n<div>\n<h1>Feature: Human Biology in the News<\/h1>\n<\/div>\n<figure id=\"attachment_2568\" aria-describedby=\"caption-attachment-2568\" style=\"width: 377px\" class=\"wp-caption alignright\"><img class=\"wp-image-2568\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Boy_with_Down_Syndrome-2.jpg\" alt=\"Image shows an image of a young boy with Down Syndrome.\" width=\"377\" height=\"519\" \/><figcaption id=\"caption-attachment-2568\" class=\"wp-caption-text\"><em>Figure 5.15.5 A Boy With Down Syndrome.<\/em><\/figcaption><\/figure>\n<p>Down syndrome is the most common genetic cause of intellectual disability. It occurs in about one in every 700 live births, and it currently affects nearly half a million Americans. Until recently, scientists thought that the changes leading to intellectual disability in people with Down syndrome all happen before birth.<\/p>\n<p>Even more recently, researchers discovered a genetic abnormality that affects brain development in people with Down syndrome throughout\u00a0childhood\u00a0and into\u00a0adulthood. The newly discovered genetic abnormality changes\u00a0communication\u00a0between nerve cells in the brain, resulting in slower transmission of\u00a0nerve impulses. This finding may eventually allow the development of strategies to promote brain functioning in Down syndrome patients, and it may also be applicable to other development disabilities, such as autism. The results of this promising study were published in the March 16, 2016 issue of the scientific journal\u00a0Neuron<em>.<\/em><\/p>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.15 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2562\">Genetic disorders<\/a> are diseases, syndromes, or other abnormal conditions that are caused by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutations<\/a> in one or more <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_5521\">genes<\/a>, or by chromosomal alterations.<\/li>\n<li>Examples of genetic disorders caused by single-gene mutations include Marfan syndrome (autosomal dominant), sickle cell anemia (autosomal recessive), vitamin D-resistant rickets (X-linked dominant), and hemophilia A (X-linked recessive). Very few genetic disorders are caused by dominant mutations because these\u00a0alleles\u00a0are less likely to be passed on to successive generations.<\/li>\n<li>Nondisjunction is the failure of replicated chromosomes to separate properly during\u00a0meiosis. This may result in genetic disorders caused by abnormal numbers of chromosomes. An example is Down syndrome, in which the individual inherits an extra copy of chromosome 21. Most chromosomal disorders involve the X chromosome. An example is Klinefelter's syndrome (XXY, XXXY).<\/li>\n<li>Prenatal genetic testing (by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2570\">amniocentesis<\/a>, for example) can detect chromosomal alterations\u00a0<em>in utero.<\/em>\u00a0The symptoms of some genetic disorders can be treated or prevented. For example, symptoms of phenylketonuria (PKU) can be prevented by following a low-phenylalanine diet throughout life.<\/li>\n<li>Cures for genetic disorders are still in the early stages of development. One potential cure is <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2573\">gene therapy<\/a>, in which normal genes are introduced into cells by a vector such as a\u00a0virus\u00a0to compensate for mutated genes.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff;\">5.15 Review Questions<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>Define genetic disorder.<\/li>\n<li>Identify three genetic disorders caused by mutations in a single gene.<\/li>\n<li>Why are single-gene genetic disorders more commonly controlled by recessive than dominant mutant\u00a0alleles?<\/li>\n<li>What is nondisjunction? Why can\u00a0it cause genetic disorders?<\/li>\n<li>Explain why genetic disorders caused by abnormal numbers of chromosomes most often involve the X chromosome.<\/li>\n<li>How is Down syndrome detected\u00a0<em>in utero<\/em>?<\/li>\n<li>Use the example of PKU to illustrate how the symptoms of a genetic disorder can sometimes be prevented.<\/li>\n<li>Explain how gene therapy works.<\/li>\n<li>Compare and contrast genetic disorders and congenital disorders.<\/li>\n<li>Explain why parents that do not have Down syndrome can have a child with Down syndrome.<\/li>\n<li>Hemophilia A and Turner\u2019s syndrome both involve problems with the X chromosome. In terms of how the X chromosome is affected, what is the major difference between these two types of disorders?<\/li>\n<li>Can you be a carrier of Marfan syndrome and not have the disorder? Explain your answer.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\">5.15 Explore More<\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?v=6tw_JVz_IEc<\/p>\n<p style=\"text-align: center;\">How CRISPR lets you edit DNA - Andrea M. Henle, TED-Ed, 2019.<\/p>\n<p>&nbsp;<\/p>\n<p>https:\/\/youtu.be\/1BXYSGepx7Q<\/p>\n<p style=\"text-align: center;\">What you need to know about CRISPR | Ellen Jorgensen, TED, 2016.<\/p>\n<p>&nbsp;<\/p>\n<p>https:\/\/youtu.be\/nOHbn8Q1fBM<\/p>\n<p style=\"text-align: center;\">The ethical dilemma of designer babies | Paul Knoepfler, TED, 2017.<\/p>\n<\/div>\n<\/div>\n<h2>Attributions<\/h2>\n<p><strong>Figure 5.15.1 <\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Polydactyly_ECS.jpg\" rel=\"cc:attributionURL\">Polydactyly_ECS<\/a> by Baujat G, Le Merrer M. on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0) license.<\/p>\n<p><strong>Figure 5.15.2<\/strong><\/p>\n<p><a href=\"https:\/\/unsplash.com\/photos\/GM5Yn5XRVqA\" rel=\"cc:attributionURL\">Downs\/ All the Family [photo]<\/a> by <a href=\"https:\/\/unsplash.com\/@nathananderson\">Nathan Anderson<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/p>\n<p><strong>Figure 5.15.3<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Phenylketonuria_testing.jpg\" rel=\"cc:attributionURL\">Phenylketonuria_testing<\/a> by U.S. Air Force photo\/Staff Sgt Eric T. Sheler in the <a href=\"https:\/\/www.archives.gov\/research\/military\/air-force\">US Air Force National Archives<\/a> on Wikimedia Commons is in the <a class=\"extiw\" title=\"w:public domain\" href=\"https:\/\/en.wikipedia.org\/wiki\/public_domain\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.15.4<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Gene_therapy.jpg#file\" rel=\"cc:attributionURL\">Gene_therapy<\/a> by National Institutes of Health (<a href=\"https:\/\/en.wikipedia.org\/wiki\/National_Institutes_of_Health\">NIH<\/a>) on Wikimedia Commons is in the <a class=\"extiw\" title=\"w:public domain\" href=\"https:\/\/en.wikipedia.org\/wiki\/public_domain\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.15.5<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Boy_with_Down_Syndrome.JPG\" rel=\"cc:attributionURL\">Boy_with_Down_Syndrome<\/a> by <a title=\"User:Vanellus Foto\" href=\"https:\/\/commons.wikimedia.org\/wiki\/User:Vanellus_Foto\">Vanellus Foto<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en\">CC BY-SA 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\">Baujat, G., Le Merrer, M. (2007, January 23). Ellis-Van Creveld syndrome. <em>Orphanet Journal of Rare Diseases,<\/em> 2, 27. https:\/\/doi.org\/10.1186\/1750-1172-2-27<\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Hecht, M. (2019, June 26). What is polydactyly? [online article]. <em>Healthline.<\/em> https:\/\/www.healthline.com\/health\/polydactyly<\/span><\/p>\n<p class=\"hanging-indent\">Genetic and Rare Diseases Information Center (GARD). (2016). Hypophosphatemic rickets (previously called vitamin D-resistant rickets) [online article]. NIH. https:\/\/rarediseases.info.nih.gov\/diseases\/6735\/hypophosphatemic-rickets [last updated 7\/1\/2020]<\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). Cystic fibrosis [online article].<\/span><span style=\"font-size: 1em; text-align: initial;\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/cystic-fibrosis\/symptoms-causes\/syc-20353700<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). <\/span>Down syndrome <span style=\"text-align: initial; font-size: 1em;\">[online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/down-syndrome\/diagnosis-treatment\/drc-20355983<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). Hemophilia [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/hemophilia\/symptoms-causes\/syc-20373327<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). Klinefelter syndrome [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/klinefelter-syndrome\/symptoms-causes\/syc-20353949<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). Marfan syndrome [online article].<\/span><span style=\"font-size: 1em; text-align: initial;\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/marfan-syndrome\/symptoms-causes\/syc-20350782<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). Phenylketonuria (PKU) [online article].<\/span><span style=\"font-size: 1em; text-align: initial;\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). Sickle cell anemia [online article].<\/span><span style=\"font-size: 1em; text-align: initial;\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). <\/span>Turner syndrome <span style=\"text-align: initial; font-size: 1em;\">[online article].<\/span><span style=\"font-size: 1em; text-align: initial;\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/turner-syndrome\/symptoms-causes\/syc-20360782<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial; font-size: 1em;\">Mayo Clinic Staff. (n.d.). <\/span>Triple X syndrome <span style=\"text-align: initial; font-size: 1em;\">[online article].<\/span><span style=\"font-size: 1em; text-align: initial;\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/triple-x-syndrome\/symptoms-causes\/syc-20350977<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"font-size: 1em; text-align: initial;\">National Center on Birth Defects and Developmental Disabilities. (2020). Fetal alcohol spectrum disorders (FASDs): Basics about FASDs [webpage]. Centers for Disease Control and Prevention (CDC). https:\/\/www.cdc.gov\/ncbddd\/fasd\/facts.html<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"font-size: 1em; text-align: initial;\">TED-Ed. (2019, January 24). How CRISPR lets you edit DNA - Andrea M. Henle. YouTube. https:\/\/www.youtube.com\/watch?v=6tw_JVz_IEc<\/span><\/p>\n<p class=\"hanging-indent\">TED. (2016, October 24). What you need to know about CRISPR | Ellen Jorgensen. YouTube. https:\/\/www.youtube.com\/watch?v=1BXYSGepx7Q&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED. (2017, February 10). The ethical dilemma of designer babies | Paul Knoepfler. YouTube. https:\/\/www.youtube.com\/watch?v=nOHbn8Q1fBM&amp;t=3s<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4606\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4606\"><div tabindex=\"-1\"><p>Created by: CK-12\/Adapted by Christine Miller<\/p>\n<figure id=\"attachment_2561\" aria-describedby=\"caption-attachment-2561\" style=\"width: 564px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2561\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2019\/06\/Polydactyly_ECS-2.jpg\" alt=\"Example of polydactyly\" width=\"564\" height=\"370\"><figcaption id=\"caption-attachment-2561\" class=\"wp-caption-text\"><em>Figure 5.15.1 Bilateral polydactyly with short fingers in a baby with Ellis-van Creveld syndrome.<\/em><\/figcaption><\/figure>\n<h1>Polly Who?<\/h1>\n<p>Each hand in the Figure 5.15.1 photo has an extra pinky finger. This is a condition called <a href=\"https:\/\/www.healthline.com\/health\/polydactyly\">polydactyly<\/a>, which literally means \"many digits.\" People with polydactyly may have extra fingers and\/or toes, and the condition may affect just one hand or foot, or both hands and feet. Polydactyly is often genetic in origin and may be part of a genetic disorder associated with other abnormalities.<\/p>\n<div>\n<h1>What Are Genetic Disorders?<\/h1>\n<\/div>\n<p><strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2562\">Genetic disorders<\/a><\/strong>\u00a0are diseases, syndromes, or other abnormal conditions caused by\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutations<\/a>\u00a0in one or more genes, or by chromosomal alterations. Genetic disorders are typically present at birth, but they should not be confused with\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2563\">congenital disorders<\/a><\/strong>,\u00a0a category that includes\u00a0any disorder present at birth, regardless of cause. Some congenital disorders are not caused by genetic mutations or chromosomal alterations. Instead, they are caused by problems that arise during embryonic or fetal\u00a0development, or during the process of birth. An example of a nongenetic congenital disorder is <a href=\"https:\/\/www.cdc.gov\/ncbddd\/fasd\/facts.html\">fetal alcohol syndrome<\/a>. This is a collection of birth defects, including facial anomalies and intellectual disability, caused by maternal alcohol consumption during\u00a0pregnancy.<\/p>\n<div>\n<h1>Genetic Disorders Caused by Mutations<\/h1>\n<\/div>\n<p>Table 5.15.1 lists several genetic disorders caused by mutations in just one gene. Some of the disorders are caused by mutations in autosomal genes, others by mutations in X-linked genes. Which disorders would you expect to be more common in males than females?<\/p>\n<table style=\"border-collapse: collapse;width: 100%\" border=\"0\">\n<caption>Table 5.15.1: Types of Genetic Disorders, Their Effects and Mode of Inheritance<\/caption>\n<tbody>\n<tr>\n<th style=\"width: 23.6865%\" scope=\"col\">Genetic Disorder<\/th>\n<th style=\"width: 24.2894%\" scope=\"col\">Direct Effect of\u00a0Mutation<\/th>\n<th style=\"width: 40.2239%\" scope=\"col\">Signs and Symptoms of the Disorder<\/th>\n<th style=\"width: 11.714%\" scope=\"col\">Mode of Inheritance<\/th>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%\"><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/marfan-syndrome\/symptoms-causes\/syc-20350782\">Marfan syndrome<\/a><\/td>\n<td style=\"width: 24.2894%\">Defective protein in connective tissue<\/td>\n<td style=\"width: 40.2239%\">Heart and bone defects and unusually long, slender limbs and fingers<\/td>\n<td style=\"width: 11.714%\">Autosomal dominant<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%\"><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876\">Sickle cell anemia<\/a><\/td>\n<td style=\"width: 24.2894%\">Abnormal hemoglobin protein in red blood cells<\/td>\n<td style=\"width: 40.2239%\">Sickle-shaped red blood cells that clog tiny blood vessels, causing pain and damaging organs and joints<\/td>\n<td style=\"width: 11.714%\">Autosomal recessive<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%\"><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/6735\/hypophosphatemic-rickets\">Hypophosphatemic\u00a0 (Vitamin D-resistant) rickets<\/a><\/td>\n<td style=\"width: 24.2894%\">Lack of a substance needed for bones to absorb minerals<\/td>\n<td style=\"width: 40.2239%\">Soft bones that easily become deformed, leading to bowed legs and other skeletal deformities<\/td>\n<td style=\"width: 11.714%\">X-linked dominant<\/td>\n<\/tr>\n<tr>\n<td style=\"width: 23.6865%\"><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/hemophilia\/symptoms-causes\/syc-20373327\">Hemophilia<\/a> A<\/td>\n<td style=\"width: 24.2894%\">Reduced activity of a protein needed for blood clotting<\/td>\n<td style=\"width: 40.2239%\">Internal and external bleeding that occurs easily and is difficult to control<\/td>\n<td style=\"width: 11.714%\">X-linked recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>Very few genetic disorders are controlled by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2543\">dominant<\/a> mutant\u00a0[pHypophosphatemicb_glossary id=\"2119\"]alleles[\/pb_glossary]. A dominant allele is expressed in every individual who inherits even one copy of it. If it causes a serious disorder, affected people may die young and fail to reproduce. Therefore, the mutant dominant allele is likely to die out of a\u00a0population.<\/p>\n<p>A recessive mutant allele \u2014 such as the allele that causes <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876\">sickle cell anemia<\/a> or <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/cystic-fibrosis\/symptoms-causes\/syc-20353700\">cystic fibrosis<\/a> \u2014 is not expressed in people who inherit just\u00a0<em>one <\/em>copy of it. These people are called\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2564\">carriers<\/a><\/strong>. They do not have the disorder themselves, but they carry the mutant allele and their offspring can inherit it. Thus, the allele is likely to pass on to the next generation, rather than die out.<\/p>\n<div>\n<h1>Genetic Disorders Caused by Chromosomal Alterations<\/h1>\n<\/div>\n<p>Mistakes may occur during\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2486\">meiosis<\/a>\u00a0that result in\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2565\">nondisjunction<\/a><\/strong>. This is the failure of replicated\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_1632\">chromosomes<\/a>\u00a0to separate properly during\u00a0meiosis. Some of the resulting <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2469\">gametes<\/a> will be missing all or part of a chromosome, while others will have an extra copy of all or part of the chromosome. If such gametes are fertilized and form <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2471\">zygotes<\/a>, they usually do not survive. If they do survive, the individuals are likely to have serious genetic disorders.<\/p>\n<p>Table 5.15.2 lists several genetic disorders that are caused by abnormal numbers of chromosomes. Most chromosomal disorders involve the X chromosome. The X and Y chromosomes are the only chromosome pair in which the two chromosomes are very different in size. This explains why nondisjunction tends to occur more frequently in sex chromosomes than in autosomes.<\/p>\n<table class=\"grid\" style=\"width: 100%;height: 251px\">\n<caption>Table 5.15.2: Genetic Disorders, Their Genotypes, and Phenotypic Effects<\/caption>\n<thead>\n<tr>\n<th>Genetic Disorder<\/th>\n<th>Genotype<\/th>\n<th>Phenotypic Effects<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/down-syndrome\/diagnosis-treatment\/drc-20355983\">Down syndrome<\/a><\/td>\n<td>Extra copy (complete or partial) of chromosome 21 (see Figure 5.15.3)<\/td>\n<td>Developmental delays, distinctive facial appearance, and other abnormalities (see Figure 5.15.2)<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/turner-syndrome\/symptoms-causes\/syc-20360782\">Turner syndrome<\/a><\/td>\n<td>One X chromosome but no other sex chromosome (XO)<\/td>\n<td>Female with short height and infertility(inability to reproduce)<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/triple-x-syndrome\/symptoms-causes\/syc-20350977\">Triple X syndrome<\/a><\/td>\n<td>Three X chromosomes (XXX)<\/td>\n<td>Female with mild developmental delays and menstrual irregularities<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/klinefelter-syndrome\/symptoms-causes\/syc-20353949\">Klinefelter syndrome<\/a><\/td>\n<td>One Y chromosome and two or more X chromosomes (XXY, XXXY)<\/td>\n<td>Male with problems in sexual development and reduced levels of the male hormone testosterone<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<table style=\"border-collapse: collapse;width: 95.1253%;height: 448px\" border=\"0\">\n<tbody>\n<tr style=\"height: 428px\">\n<td style=\"width: 50%;height: 428px\">\n<figure id=\"attachment_2567\" aria-describedby=\"caption-attachment-2567\" style=\"width: 638px\" class=\"wp-caption alignnone\"><img class=\"wp-image-2567\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Downs-in-the-Family-photo-by-nathan-anderson-GM5Yn5XRVqA-unsplash-scaled-3.jpg\" alt=\"Image shows a family comprised of a woman (mom), a young adult with Down Syndrome and a man (dad).\" width=\"638\" height=\"435\"><figcaption id=\"caption-attachment-2567\" class=\"wp-caption-text\"><em>Figure 5.15.2 Family with down syndrome child.<\/em><\/figcaption><\/figure>\n<\/td>\n<td style=\"width: 91.5728%;height: 428px\">\n<figure id=\"attachment_2566\" aria-describedby=\"caption-attachment-2566\" style=\"width: 407px\" class=\"wp-caption alignnone\"><img class=\"wp-image-2566\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Down_Syndrome_Karyotype-2.png\" alt=\"Down Syndrome Karyotype\" width=\"407\" height=\"438\"><figcaption id=\"caption-attachment-2566\" class=\"wp-caption-text\"><em>Figure 5.15.3 Trisomy 21 (Down Syndrome) Karyotype.<\/em><\/figcaption><\/figure>\n<\/td>\n<\/tr>\n<tr style=\"height: 76px\">\n<td style=\"width: 50%;height: 20px\"><\/td>\n<td style=\"width: 91.5728%;height: 20px\"><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><span style=\"font-size: 16px\">A karyotype is a picture of a cell's chromosomes. In Figure 5.15.3, note the extra chromosome 21. In Figure 5.15.2, a young man with Down syndrome exhibits the characteristic facial appearance.<\/span><\/p>\n<h1>Diagnosing and Treating Genetic Disorders<\/h1>\n<p>A genetic disorder that is caused by a\u00a0mutation\u00a0can be inherited. Therefore, people with a genetic disorder in their family may be concerned about having children with the disorder. A genetic counselor can help them understand the risks of their children being affected. If they decide to have children, they may be advised to have prenatal (\u201cbefore birth\u201d) testing to see if the fetus has any genetic abnormalities. One method of prenatal testing is <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2570\">amniocentesis<\/a>. In this procedure, a few fetal\u00a0cells\u00a0are extracted from the fluid surrounding the fetus\u00a0<em>in utero<\/em>, and the fetal chromosomes are examined. Down syndrome and other chromosomal alterations can be detected in this way.<\/p>\n<figure id=\"attachment_2571\" aria-describedby=\"caption-attachment-2571\" style=\"width: 412px\" class=\"wp-caption alignleft\"><img class=\" wp-image-2571\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Phenylketonuria_testing-2.jpg\" alt=\"Image shows a how a PKU test is conducted.\" width=\"412\" height=\"228\"><figcaption id=\"caption-attachment-2571\" class=\"wp-caption-text\"><em>Figure 5.15.3 The PKU test is conducted shortly after birth in order to determine if an infant has higher than normal levels of phenylalanine.<\/em><\/figcaption><\/figure>\n<p>The symptoms of genetic disorders can sometimes be treated or prevented. In the genetic disorder called <a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302\">phenylketonuria<\/a> (PKU), for example, the amino acid phenylalanine builds up in the body to harmful levels. PKU is caused by a <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutation<\/a> in a gene that normally codes for an <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_304\">enzyme<\/a> needed to break down phenylalanine. When a person with PKU consumes foods high in phenylalanine (including many high-protein foods), the buildup of PKU can lead to serious health problems. In infants and young children, the build-up of phenylalanine can cause intellectual disability and delayed development, along with other serious problems. All babies in Canada and the United States and many other countries are screened for PKU soon after birth.\u00a0 As shown in Figure 5.15.3, the PKU test involves collecting a small amount of blood from the infant, typically from the heel using a small lancet.\u00a0 The blood is collected on a special type of filter paper and then brought to a laboratory for analysis. If PKU is diagnosed, the infant can be fed a low-phenylalanine diet, which prevents the buildup of phenylalanine and the health problems associated with it, including intellectual disability. As long as a low-phenylalanine diet is followed throughout life, most symptoms of the disorder can be prevented.<\/p>\n<div>\n<h1>Curing Genetic Disorders<\/h1>\n<\/div>\n<p>Cures for genetic disorders are still in the early stages of development. One potential cure is\u00a0gene therapy.\u00a0<strong><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2573\">Gene therapy<\/a><\/strong>\u00a0is an experimental technique that uses genes to treat or prevent disease. In gene therapy, normal <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_529\">genes<\/a> are introduced into <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_175\">cells<\/a> to compensate for abnormal genes. If a mutated gene causes a necessary <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_297\">protein<\/a> to be nonfunctional or missing, gene therapy may be able to introduce a normal copy of the gene to produce the needed functional protein.<\/p>\n<p>A gene inserted directly into a cell usually does not function, so a carrier called a\u00a0<a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2574\"><strong>vector<\/strong> <\/a>is genetically engineered to deliver the gene (see <em>Figure <em style=\"font-size: 1em\">5.15.<\/em>4<\/em> <span style=\"text-align: initial;font-size: 1em\">illustration). Certain viruses, such as adenoviruses, are often used as vectors. They can deliver the new gene by infecting cells. The viruses are modified so they do not cause disease when used in people. If the treatment is successful, the new gene delivered by the vector will allow the synthesis of a functioning protein. Researchers still must overcome many technical challenges before gene therapy will be a practical approach to curing genetic disorders.<\/span><\/p>\n<p>&nbsp;<\/p>\n<figure id=\"attachment_2575\" aria-describedby=\"caption-attachment-2575\" style=\"width: 559px\" class=\"wp-caption aligncenter\"><img class=\"wp-image-2575\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Gene_therapy-2.jpg\" alt=\"Image shows how adenoviruses are used in gene therapy.\" width=\"559\" height=\"419\"><figcaption id=\"caption-attachment-2575\" class=\"wp-caption-text\"><em>Figure 5.15.4 Gene therapy is an experimental technique for curing a genetic disorder by changing the patient's genetic makeup. Typically, gene therapy involves introducing a normal copy of a mutant gene into the patient's cells.<\/em><\/figcaption><\/figure>\n<div><\/div>\n<div>\n<h1>Feature: Human Biology in the News<\/h1>\n<\/div>\n<figure id=\"attachment_2568\" aria-describedby=\"caption-attachment-2568\" style=\"width: 377px\" class=\"wp-caption alignright\"><img class=\"wp-image-2568\" src=\"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-content\/uploads\/sites\/152\/2023\/10\/Boy_with_Down_Syndrome-2.jpg\" alt=\"Image shows an image of a young boy with Down Syndrome.\" width=\"377\" height=\"519\"><figcaption id=\"caption-attachment-2568\" class=\"wp-caption-text\"><em>Figure 5.15.5 A Boy With Down Syndrome.<\/em><\/figcaption><\/figure>\n<p>Down syndrome is the most common genetic cause of intellectual disability. It occurs in about one in every 700 live births, and it currently affects nearly half a million Americans. Until recently, scientists thought that the changes leading to intellectual disability in people with Down syndrome all happen before birth.<\/p>\n<p>Even more recently, researchers discovered a genetic abnormality that affects brain development in people with Down syndrome throughout\u00a0childhood\u00a0and into\u00a0adulthood. The newly discovered genetic abnormality changes\u00a0communication\u00a0between nerve cells in the brain, resulting in slower transmission of\u00a0nerve impulses. This finding may eventually allow the development of strategies to promote brain functioning in Down syndrome patients, and it may also be applicable to other development disabilities, such as autism. The results of this promising study were published in the March 16, 2016 issue of the scientific journal\u00a0Neuron<em>.<\/em><\/p>\n<div class=\"textbox textbox--key-takeaways\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.15 Summary<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ul>\n<li><a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2562\">Genetic disorders<\/a> are diseases, syndromes, or other abnormal conditions that are caused by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2381\">mutations<\/a> in one or more <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_529\">genes<\/a>, or by chromosomal alterations.<\/li>\n<li>Examples of genetic disorders caused by single-gene mutations include Marfan syndrome (autosomal dominant), sickle cell anemia (autosomal recessive), vitamin D-resistant rickets (X-linked dominant), and hemophilia A (X-linked recessive). Very few genetic disorders are caused by dominant mutations because these\u00a0alleles\u00a0are less likely to be passed on to successive generations.<\/li>\n<li>Nondisjunction is the failure of replicated chromosomes to separate properly during\u00a0meiosis. This may result in genetic disorders caused by abnormal numbers of chromosomes. An example is Down syndrome, in which the individual inherits an extra copy of chromosome 21. Most chromosomal disorders involve the X chromosome. An example is Klinefelter's syndrome (XXY, XXXY).<\/li>\n<li>Prenatal genetic testing (by <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2570\">amniocentesis<\/a>, for example) can detect chromosomal alterations\u00a0<em>in utero.<\/em>\u00a0The symptoms of some genetic disorders can be treated or prevented. For example, symptoms of phenylketonuria (PKU) can be prevented by following a low-phenylalanine diet throughout life.<\/li>\n<li>Cures for genetic disorders are still in the early stages of development. One potential cure is <a class=\"glossary-term\" aria-haspopup=\"dialog\" aria-describedby=\"definition\" href=\"#term_5162_2573\">gene therapy<\/a>, in which normal genes are introduced into cells by a vector such as a\u00a0virus\u00a0to compensate for mutated genes.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--exercises\">\n<header class=\"textbox__header\">\n<h1 class=\"textbox__title\"><span style=\"color: #ffffff\">5.15 Review Questions<\/span><\/h1>\n<\/header>\n<div class=\"textbox__content\">\n<ol>\n<li>Define genetic disorder.<\/li>\n<li>Identify three genetic disorders caused by mutations in a single gene.<\/li>\n<li>Why are single-gene genetic disorders more commonly controlled by recessive than dominant mutant\u00a0alleles?<\/li>\n<li>What is nondisjunction? Why can\u00a0it cause genetic disorders?<\/li>\n<li>Explain why genetic disorders caused by abnormal numbers of chromosomes most often involve the X chromosome.<\/li>\n<li>How is Down syndrome detected\u00a0<em>in utero<\/em>?<\/li>\n<li>Use the example of PKU to illustrate how the symptoms of a genetic disorder can sometimes be prevented.<\/li>\n<li>Explain how gene therapy works.<\/li>\n<li>Compare and contrast genetic disorders and congenital disorders.<\/li>\n<li>Explain why parents that do not have Down syndrome can have a child with Down syndrome.<\/li>\n<li>Hemophilia A and Turner\u2019s syndrome both involve problems with the X chromosome. In terms of how the X chromosome is affected, what is the major difference between these two types of disorders?<\/li>\n<li>Can you be a carrier of Marfan syndrome and not have the disorder? Explain your answer.<\/li>\n<\/ol>\n<\/div>\n<\/div>\n<div class=\"textbox textbox--examples\">\n<header class=\"textbox__header\">\n<p class=\"textbox__title\">5.15 Explore More<\/p>\n<\/header>\n<div class=\"textbox__content\">\n<p>https:\/\/www.youtube.com\/watch?v=6tw_JVz_IEc<\/p>\n<p style=\"text-align: center\">How CRISPR lets you edit DNA - Andrea M. Henle, TED-Ed, 2019.<\/p>\n<p>&nbsp;<\/p>\n<p>https:\/\/youtu.be\/1BXYSGepx7Q<\/p>\n<p style=\"text-align: center\">What you need to know about CRISPR | Ellen Jorgensen, TED, 2016.<\/p>\n<p>&nbsp;<\/p>\n<p>https:\/\/youtu.be\/nOHbn8Q1fBM<\/p>\n<p style=\"text-align: center\">The ethical dilemma of designer babies | Paul Knoepfler, TED, 2017.<\/p>\n<\/div>\n<\/div>\n<h2>Attributions<\/h2>\n<p><strong>Figure 5.15.1 <\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Polydactyly_ECS.jpg\" rel=\"cc:attributionURL\">Polydactyly_ECS<\/a> by Baujat G, Le Merrer M. on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\/\" rel=\"license\">CC BY 2.0<\/a> (https:\/\/creativecommons.org\/licenses\/by\/2.0) license.<\/p>\n<p><strong>Figure 5.15.2<\/strong><\/p>\n<p><a href=\"https:\/\/unsplash.com\/photos\/GM5Yn5XRVqA\" rel=\"cc:attributionURL\">Downs\/ All the Family [photo]<\/a> by <a href=\"https:\/\/unsplash.com\/@nathananderson\">Nathan Anderson<\/a> on <a href=\"https:\/\/unsplash.com\/\">Unsplash<\/a> is used under the <a class=\"ICezk _2GAZm _2WvKc\" href=\"https:\/\/unsplash.com\/license\">Unsplash License<\/a> (https:\/\/unsplash.com\/license).<\/p>\n<p><strong>Figure 5.15.3<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Phenylketonuria_testing.jpg\" rel=\"cc:attributionURL\">Phenylketonuria_testing<\/a> by U.S. Air Force photo\/Staff Sgt Eric T. Sheler in the <a href=\"https:\/\/www.archives.gov\/research\/military\/air-force\">US Air Force National Archives<\/a> on Wikimedia Commons is in the <a class=\"extiw\" title=\"w:public domain\" href=\"https:\/\/en.wikipedia.org\/wiki\/public_domain\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.15.4<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Gene_therapy.jpg#file\" rel=\"cc:attributionURL\">Gene_therapy<\/a> by National Institutes of Health (<a href=\"https:\/\/en.wikipedia.org\/wiki\/National_Institutes_of_Health\">NIH<\/a>) on Wikimedia Commons is in the <a class=\"extiw\" title=\"w:public domain\" href=\"https:\/\/en.wikipedia.org\/wiki\/public_domain\">public domain<\/a> (https:\/\/en.wikipedia.org\/wiki\/Public_domain).<\/p>\n<p><strong>Figure 5.15.5<\/strong><\/p>\n<p><a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Boy_with_Down_Syndrome.JPG\" rel=\"cc:attributionURL\">Boy_with_Down_Syndrome<\/a> by <a title=\"User:Vanellus Foto\" href=\"https:\/\/commons.wikimedia.org\/wiki\/User:Vanellus_Foto\">Vanellus Foto<\/a> on Wikimedia Commons is used under a <a href=\"https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en\">CC BY-SA 3.0<\/a> (https:\/\/creativecommons.org\/licenses\/by-sa\/3.0\/deed.en) license.<\/p>\n<h2>References<\/h2>\n<p class=\"hanging-indent\">Baujat, G., Le Merrer, M. (2007, January 23). Ellis-Van Creveld syndrome. <em>Orphanet Journal of Rare Diseases,<\/em> 2, 27. https:\/\/doi.org\/10.1186\/1750-1172-2-27<\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Hecht, M. (2019, June 26). What is polydactyly? [online article]. <em>Healthline.<\/em> https:\/\/www.healthline.com\/health\/polydactyly<\/span><\/p>\n<p class=\"hanging-indent\">Genetic and Rare Diseases Information Center (GARD). (2016). Hypophosphatemic rickets (previously called vitamin D-resistant rickets) [online article]. NIH. https:\/\/rarediseases.info.nih.gov\/diseases\/6735\/hypophosphatemic-rickets [last updated 7\/1\/2020]<\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). Cystic fibrosis [online article].<\/span><span style=\"font-size: 1em;text-align: initial\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/cystic-fibrosis\/symptoms-causes\/syc-20353700<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). <\/span>Down syndrome <span style=\"text-align: initial;font-size: 1em\">[online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/down-syndrome\/diagnosis-treatment\/drc-20355983<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). Hemophilia [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/hemophilia\/symptoms-causes\/syc-20373327<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). Klinefelter syndrome [online article]. MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/klinefelter-syndrome\/symptoms-causes\/syc-20353949<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). Marfan syndrome [online article].<\/span><span style=\"font-size: 1em;text-align: initial\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/marfan-syndrome\/symptoms-causes\/syc-20350782<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). Phenylketonuria (PKU) [online article].<\/span><span style=\"font-size: 1em;text-align: initial\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). Sickle cell anemia [online article].<\/span><span style=\"font-size: 1em;text-align: initial\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/sickle-cell-anemia\/symptoms-causes\/syc-20355876<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). <\/span>Turner syndrome <span style=\"text-align: initial;font-size: 1em\">[online article].<\/span><span style=\"font-size: 1em;text-align: initial\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/turner-syndrome\/symptoms-causes\/syc-20360782<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"text-align: initial;font-size: 1em\">Mayo Clinic Staff. (n.d.). <\/span>Triple X syndrome <span style=\"text-align: initial;font-size: 1em\">[online article].<\/span><span style=\"font-size: 1em;text-align: initial\"> MayoClinic.org. https:\/\/www.mayoclinic.org\/diseases-conditions\/triple-x-syndrome\/symptoms-causes\/syc-20350977<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"font-size: 1em;text-align: initial\">National Center on Birth Defects and Developmental Disabilities. (2020). Fetal alcohol spectrum disorders (FASDs): Basics about FASDs [webpage]. Centers for Disease Control and Prevention (CDC). https:\/\/www.cdc.gov\/ncbddd\/fasd\/facts.html<\/span><\/p>\n<p class=\"hanging-indent\"><span style=\"font-size: 1em;text-align: initial\">TED-Ed. (2019, January 24). How CRISPR lets you edit DNA - Andrea M. Henle. YouTube. https:\/\/www.youtube.com\/watch?v=6tw_JVz_IEc<\/span><\/p>\n<p class=\"hanging-indent\">TED. (2016, October 24). What you need to know about CRISPR | Ellen Jorgensen. YouTube. https:\/\/www.youtube.com\/watch?v=1BXYSGepx7Q&amp;feature=youtu.be<\/p>\n<p class=\"hanging-indent\">TED. (2017, February 10). The ethical dilemma of designer babies | Paul Knoepfler. YouTube. https:\/\/www.youtube.com\/watch?v=nOHbn8Q1fBM&amp;t=3s<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4543\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4543\"><div tabindex=\"-1\"><p>Image shows a diagram of the three stages of Translation.  In Initiation, mRNA, a ribosome and tRNA carry methionine form a complex.  In elongation, the ribosome moves along the mRNA, as tRNA with matching anticodons bring and then drop off the corresponding amino acids.  In termination, a stop codon is reached, and the entire complex disassembles, and releases the newly synthesize polypeptide.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4583\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4583\"><div tabindex=\"-1\"><p>Image shows an example of a Punnett Square.  In this example, a mother and father who are both heterozygous for eye colour result in four children of whom: 25% have blue eyes, 75% have brown eyes, 25% are homozygous dominant (with brown eyes being the dominant trait), 25% are homozygous recessive, and 50% are heterozygous<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_5923\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_5923\"><div tabindex=\"-1\"><p>The smallest type of blood vessel that connects arterioles and venules and that transfers substances between blood and tissues.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><template id=\"term_5162_4607\"><div class=\"glossary__definition\" role=\"dialog\" data-id=\"term_5162_4607\"><div tabindex=\"-1\"><p>Image shows a diagram of polymerase chain reaction, which occurs in three steps: 1) Denaturing, which separates the strands of DNA 2) Annealing, in which primers bind to the template DNA strands 3) Extension, in which Taq polymerase synthesizes new DNA strands from the original, now separated strands.<\/p>\n<\/div><button><span aria-hidden=\"true\">&times;<\/span><span class=\"screen-reader-text\">Close definition<\/span><\/button><\/div><\/template><\/div>","protected":false},"author":32,"menu_order":3,"template":"","meta":{"pb_show_title":"on","pb_short_title":"","pb_subtitle":"","pb_authors":[],"pb_section_license":"cc-by-nc"},"chapter-type":[48],"contributor":[],"license":[55],"class_list":["post-5162","chapter","type-chapter","status-publish","hentry","chapter-type-numberless","license-cc-by-nc"],"part":5139,"_links":{"self":[{"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/chapters\/5162","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/chapters"}],"about":[{"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/wp\/v2\/types\/chapter"}],"author":[{"embeddable":true,"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/wp\/v2\/users\/32"}],"version-history":[{"count":4,"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/chapters\/5162\/revisions"}],"predecessor-version":[{"id":6490,"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/chapters\/5162\/revisions\/6490"}],"part":[{"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/parts\/5139"}],"metadata":[{"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/chapters\/5162\/metadata\/"}],"wp:attachment":[{"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/wp\/v2\/media?parent=5162"}],"wp:term":[{"taxonomy":"chapter-type","embeddable":true,"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/pressbooks\/v2\/chapter-type?post=5162"},{"taxonomy":"contributor","embeddable":true,"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/wp\/v2\/contributor?post=5162"},{"taxonomy":"license","embeddable":true,"href":"https:\/\/pressbooks.ccconline.org\/acchumanbio\/wp-json\/wp\/v2\/license?post=5162"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}