{"id":1347,"date":"2020-08-06T21:14:36","date_gmt":"2020-08-06T21:14:36","guid":{"rendered":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/transmission-genetics\/single-gene-disorders\/"},"modified":"2021-10-02T22:34:28","modified_gmt":"2021-10-02T20:34:28","slug":"single-gene-disorders","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/transmission-genetics\/single-gene-disorders\/","title":{"rendered":"Single Gene Disorders"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><div class=\"intro\">Single gene disorders are disorders caused by a mutation in one gene. They usually follow the Mendelian pattern of inheritance.<\/div><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">We study these traits\/disorders using <strong>Pedigrees<\/strong>; diagrams that show the relationships among family members. It is like a family tree that tells us who has\/has a certain trait\/disorder and who doesn&#8217;t.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Based on what chromosomes they are carried on and how they are inherited, they can be classified in six ways:<\/p>\n\n\n\n<ol class=\"wp-block-list\"><li>Autosomal Dominant Disorders<\/li><li>Autosomal Recessive Disorders<\/li><li>X-linked Dominant Disorders<\/li><li>X-linked Recessive Disorders<\/li><li>Y-linked Disorders<\/li><li>Mitochondrial Inheritance Disorders<\/li><\/ol>\n\n\n<span class=\"block-heading\" id=\"header_1\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Autosomal dominant disorders<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_1\">\n\n\n<p class=\"wp-block-paragraph\">These are disorders that the diseased allele is dominant and is present on one of the autosomes(chromosomes 1-22).<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>This means that both the homozygous dominants and heterozygotes are affected.<\/li><li>The patients are mostly heterozygous as homozygous individuals were erased due to natural selection.<\/li><li>They mainly affect the nervous and skeletal system.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Examples include:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Alzheimer&#8217;s disease<\/li><li>Huntington disease<\/li><li>Achondroplasia<\/li><li>Familial hypercholesterolemia<\/li><li>Neurofibromatosis<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/download-1.png\" target=\"_blank\" title=\"Single Gene Disorders\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/download-1.png\" alt=\"\" class=\"wp-image-27349\"\/><\/a><figcaption><strong>In autosomal dominant inheritance, the trait is equally distributed among both sexes and it does not skip a generation. The circles represent females and the squares represent men. The shaded one signifies the affected people.<\/strong> (Credit; Hydra2114, CC BY-SA 4.0)<\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_2\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Autosomal Recessive Disorders<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_2\">\n\n\n<p class=\"wp-block-paragraph\">These are disorders that the diseased allele is recessive and is present on one of the autosomes(chromosomes 1-22)<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>This means that both homozygous recessives and compound heterozygotes(especially when the diseased allele has multiple forms e.g cystic fibrosis) are affected.<\/li><li>Heterozygotes(not compound) are carriers but are usually not affected and usually do not show symptoms of the disease. They can pass the mutant allele onto their offspring.<\/li><li>They mainly affect enzymes.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Examples include:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Cystic fibrosis<\/li><li>Albinism<\/li><li>Sickle cell disease<\/li><li>Alkaptonuria<\/li><li>Tay-Sachs disease<\/li><li>Phenylketonuria<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/1280px-Wiki_Drawing_-_Autosomal_Recessive_2.svg_.png\" target=\"_blank\" title=\"Single Gene Disorders\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/1280px-Wiki_Drawing_-_Autosomal_Recessive_2.svg_-600x260.png\" alt=\"\" class=\"wp-image-27352\"\/><\/a><figcaption><strong>In autosomal recessive inheritance, the trait is equally distributed among both sexes and it usually skips one or more generations. The circles represent females and the squares represent men. The shaded shapes signify the affected people.<\/strong> (Credit: Madibc68, CC BY-SA 4.0)<\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_3\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">X-linked Dominant Disorders<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_3\">\n\n\n<p class=\"wp-block-paragraph\">These are disorders that the diseased allele is dominant and is present on the X chromosome<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>They are expressed in females who are heterozygotes or homozygous dominants<\/li><li>Males with the mutant X chromosome will express the disease either way(the issue of homozygosity or heterozygosity doesn&#8217;t arise here as healthy males have only one X chromosome).<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Examples include:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Hypophosphatemic rickets<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_4\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">X-linked Recessive Disorders<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_4\">\n\n\n<p class=\"wp-block-paragraph\">These are disorders that the diseased allele is recessive and is present on the X chromosome<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>They are expressed in females who are homozygous recessive. Females with a heterozygous genotype are carriers but will be healthy.<\/li><li>Males with the mutant X chromosome will express the disease either way(the issue of homozygosity or heterozygosity doesn&#8217;t arise here as healthy males have only one X chromosome).<\/li><li>An affected mother will pass it to all her sons because boys receive their X chromosome from their mother and the mother has two mutant chromosomes.<\/li><li>It is more common in males than in females.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Examples include:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Colour-blindness<\/li><li>Duchenne&#8217;s Muscular Dystrophy<\/li><li>Haemophilia<\/li><li>Glucose-6-Phosphate dehydrogenase deficiency<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/download-2.png\" target=\"_blank\" title=\"Single Gene Disorders\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/download-2.png\" alt=\"\" class=\"wp-image-27354\"\/><\/a><figcaption><strong>In X-linked recessive inheritance, the trait is more common in men than in women. All male children of an affected mother will possess the trait. The circles represent females and the squares represent men. The shaded shapes signify the affected people.<\/strong> (Credit: Madibc68, CC BY-SA 4.0)<\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_5\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Y-linked Disorders<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_5\">\n\n\n<p class=\"wp-block-paragraph\">These are disorders that the diseased allele is present in the Y chromosome.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Because of this, they only affect males and are passed down from fathers to sons. The issue of homozygosity or heterozygosity doesn&#8217;t arise here as healthy males have only one Y chromosome.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Examples include<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Y chromosome infertility<\/li><li>Swyer syndrome(some forms)<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/download-3.png\" target=\"_blank\" title=\"Single Gene Disorders\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/download-3.png\" alt=\"\" class=\"wp-image-27357\"\/><\/a><figcaption><strong>In Y-linked inheritance, the trait is found only in men. All male children of an affected father will possess the trait and it does not skip a generation. The circles represent females and the squares represent men. The shaded shapes signify the affected people<\/strong>. (Credit: Madibc68, CC BY-SA 4.0)<\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_6\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Mitochondrial Inheritance Disorders<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_6\">\n\n\n<p class=\"wp-block-paragraph\">These are special types of disorders whose inheritance is done through the mitochondria. They are also known as <strong>Maternal Inheritance<\/strong> Disorders.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>As you may know from Biology, the zygote receives its mitochondria from the egg. This means that all of us get our mitochondria from our mothers and therefore our mitochondrial DNA is the same as that of our mother.<\/li><li>In this case. if a certain disease affects the mitochondrial genome, it will be passed down to ALL the offspring, there is no way to escape this because the sperm contributes absolutely no mitochondria at all.<\/li><li>As the mitochondria are the &#8216;powerhouse of the cell&#8217;, it makes sense that such disease will affect tissues with a high ATP demand such as the muscles and kidneys.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Examples include:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Leigh syndrome<\/li><li>Encelopahty<\/li><li>Kearns Sayre syndrome<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Maternal_Inheritance_-_mitochondrial_DNA.png\" target=\"_blank\" title=\"Single Gene Disorders\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Maternal_Inheritance_-_mitochondrial_DNA-600x423.png\" alt=\"\" class=\"wp-image-27359\"\/><\/a><figcaption><strong>In mitochondrial inheritance, the trait is found equally in both sexes. All children of an affected mother will possess the trait and it does not skip a generation.<\/strong> (Credit: Sciencia58, CC0 1.0)<\/figcaption><\/figure><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Note that because of the <strong>Endosymbiosis theory<\/strong>, mitochondrial DNA is similar to prokaryotic DNA in the sense that there are no introns, no histones and they have a high mutation rate due to lack of efficient DNA repair systems.<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Endosymbiotic_theory.jpg\" target=\"_blank\" title=\"Single Gene Disorders\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Endosymbiotic_theory-600x299.jpg\" alt=\"\" class=\"wp-image-26940\"\/><\/a><figcaption><strong>Schematic representation and summary of the endosymbiotic theory. It is estimated to have happened about 1.5 billion years ago<\/strong>(Credit: Phil Schatz, CC BY-SA 4.0)<\/figcaption><\/figure><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Further details on some of the diseases listed here appear in the <a href=\"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/\">Genetic Diseases<\/a> section.<\/p>\n<\/span><div id=\"the_titles\" style=\"display:none;\"><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Autosomal dominant disorders<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Autosomal Recessive Disorders<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">X-linked Dominant Disorders<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">X-linked Recessive Disorders<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Y-linked Disorders<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Mitochondrial Inheritance Disorders<\/h4><\/div>","protected":false},"excerpt":{"rendered":"<p>We study these traits\/disorders using Pedigrees; diagrams that show the relationships among family members. It is like a family tree that tells us who has\/has a certain trait\/disorder and who doesn&#8217;t. Based on what chromosomes they are carried on and how they are inherited, they can be classified in six ways: Autosomal Dominant Disorders Autosomal [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":1346,"menu_order":2,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1347","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Single Gene Disorders &#8211; Meddists<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/transmission-genetics\/single-gene-disorders\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"6 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/transmission-genetics\\\/single-gene-disorders\\\/\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/transmission-genetics\\\/single-gene-disorders\\\/\",\"name\":\"Single Gene Disorders &#8211; 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