{"id":23661,"date":"2025-06-17T20:27:50","date_gmt":"2025-06-17T20:27:50","guid":{"rendered":"https:\/\/gaviki.com\/blog\/?p=23661"},"modified":"2025-06-17T20:27:57","modified_gmt":"2025-06-17T20:27:57","slug":"the-genetic-phenotype-of-a-missense-mutation-resulting-in-marfan-syndrome-is","status":"publish","type":"post","link":"https:\/\/gaviki.com\/blog\/the-genetic-phenotype-of-a-missense-mutation-resulting-in-marfan-syndrome-is\/","title":{"rendered":"The genetic phenotype of a missense mutation resulting in Marfan syndrome is"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">The genetic phenotype of a missense mutation resulting in Marfan syndrome is: <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">a. Dominant. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">b. Dominant with delay onset. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">c. Recessive. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">d. Co-Dominant. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">e. None of the above<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><mark style=\"background-color:rgba(0, 0, 0, 0)\" class=\"has-inline-color has-vivid-cyan-blue-color\"><strong>The correct answer and explanation is:<\/strong><\/mark><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Correct Answer: a. Dominant<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Explanation (Approx. 300 words):<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Marfan syndrome is a genetic disorder that affects the body\u2019s connective tissue. It is caused by mutations in the <strong>FBN1 gene<\/strong>, which encodes <strong>fibrillin-1<\/strong>, an essential protein that contributes to the strength and elasticity of connective tissue.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The <strong>genetic phenotype<\/strong> of Marfan syndrome is <strong>dominant<\/strong>, meaning that <strong>a single copy<\/strong> of the mutated gene (from either parent) is enough to cause the disorder. This pattern is referred to as <strong>autosomal dominant inheritance<\/strong>. Therefore, if one parent has Marfan syndrome, there is a <strong>50% chance<\/strong> with each pregnancy that the child will inherit the mutation and develop the condition.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A <strong>missense mutation<\/strong>, which leads to the substitution of one amino acid for another in the protein, is a common type of mutation observed in Marfan syndrome. Many such mutations result in an abnormal fibrillin-1 protein that disrupts the structural integrity of connective tissue.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Unlike recessive conditions (which require two defective copies of the gene to manifest the disorder), Marfan syndrome can arise from <strong>just one mutated allele<\/strong>. This dominant expression of the disease makes it easier to track in families and contributes to its relatively consistent appearance across generations.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Although the severity and age of onset can vary greatly\u2014even among individuals within the same family\u2014<strong>delayed onset is not a defining feature<\/strong> of the syndrome in the way it is for some other genetic conditions like Huntington&#8217;s disease. Symptoms of Marfan syndrome can often be recognized in childhood or adolescence, although some individuals may not be diagnosed until adulthood.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Co-dominance, in which both alleles are fully expressed (as in blood types AB), does not apply to Marfan syndrome.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In conclusion, Marfan syndrome resulting from a missense mutation in the FBN1 gene demonstrates a <strong>dominant<\/strong> inheritance pattern, making <strong>option a<\/strong> the correct choice.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>The genetic phenotype of a missense mutation resulting in Marfan syndrome is: a. Dominant. b. Dominant with delay onset. c. Recessive. d. Co-Dominant. e. None of the above The correct answer and explanation is: Correct Answer: a. Dominant Explanation (Approx. 300 words): Marfan syndrome is a genetic disorder that affects the body\u2019s connective tissue. It [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-23661","post","type-post","status-publish","format-standard","hentry","category-quiz-questions"],"_links":{"self":[{"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/posts\/23661","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/comments?post=23661"}],"version-history":[{"count":1,"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/posts\/23661\/revisions"}],"predecessor-version":[{"id":23662,"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/posts\/23661\/revisions\/23662"}],"wp:attachment":[{"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/media?parent=23661"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/categories?post=23661"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/gaviki.com\/blog\/wp-json\/wp\/v2\/tags?post=23661"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}