Discussion
Which of the following represents triplet repeat disorder ?
Answer: A
The triplet repeat disorder is Huntington's disease.
Huntington's disease is caused by expansion of a CAG repeat in the HTT gene: more than about 36 repeats give an expanded polyglutamine tract in the huntingtin protein, which damages neurons. Like other repeat disorders it shows anticipation, with longer repeats and earlier onset in later generations.
Cystic fibrosis is usually caused by a three-base deletion (ΔF508) in CFTR, not a repeat expansion. Xeroderma pigmentosum is a defect of nucleotide excision repair, and phenylketonuria results from point mutations in the phenylalanine hydroxylase gene.
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