Triplet repeat disorders - allele ranges Flashcards Preview

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Flashcards in Triplet repeat disorders - allele ranges Deck (2)
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1
Q

Give the allele classes for HD.

A

Normal <27

Intermediate 28-35

Incomplete penetrance: 36-39

Full penetrance >40

Juvenile >60

2
Q

What is the TR locus in HD?

A

CAG repeat in exon 1 of HTT (4p16.3)