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Biochemistry Cholesterol and Lipoproteins ab84961c

Inheritance of Familial Hypercholesterolemia is?

A
Autosomal dominant
B
Autosomal recessive
C
X Linked dominant
D
X Linked recessive
High-Yield Explanation
ANSWER: (A) Autosomal dominantREF: Lehninger Principles of Biochemistry 4th edition page 827, style="color: rgba(20, 20, 20, 1); font-family: Times New Roman, Times, serif"> pubmedhealth/PMH0001429/In familial hypercholesterolemia, a human genetic disorder, blood levels of cholesterol are extremely high and severe atherosclerosis develops in childhood. These individuals have a defective LDL receptor and lack receptor-mediated uptake of cholesterol carried by LDL. Consequently, cholesterol is not cleared from the blood; it accumulates and contributes to the formation of atherosclerotic plaques.Familial hypercholesterolemia is a genetic disorder caused by a defect on chromosome 19. The condition is typically passed down through families in an autosomal dominant manner. The most common genetic defects in FH are LDLR mutations (prevalence 1 in 500, depending on the population), ApoB mutations (prevalence 1 in 1000), PCSK9 mutations (less than 1 in 2500) and LDLRAP1

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