Question
The genetic defect in the condition shown in the picture below, is a germline mutation in the ?
A. APC gene.
B. MAP gene.
C. MYH gene.
D. None of the above.
Show Answer
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Correct Answer » A
Explanation
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The condition shown in the picture above represents Familial adenomatous polyposis (FAP) which is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon.
The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene.
Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, some families with Turcot syndrome, and attenuated adenomatous polyposis coli (AAPC).
