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Biochemistry · Genetics: anticipation
Sample itemWhat genetic mechanism underlies anticipation in Huntington disease?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Expansion of CAG trinucleotide repeats
Huntington disease results from CAG repeat expansion in the HTT gene, and repeat length can increase across generations, causing earlier and more severe disease. Paternal transmission often shows greater expansion.
Option by option
A. Robertsonian translocation
Robertsonian translocations involve acrocentric chromosomes.
B. Loss of an entire chromosome
Whole-chromosome loss causes aneuploidy, not repeat anticipation.
C. Mitochondrial heteroplasmy only
Mitochondrial heteroplasmy causes variable maternal inheritance.
D. Expansion of CAG trinucleotide repeats (correct)
Correct. CAG expansion explains anticipation in Huntington disease.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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