Huntington's Flashcards by M J | Brainscape

Q

Htt mutation

A

autosomal dominant

expansion in the size of a CAG repeat tract in exon 1 causes HD

CAG encodes glutamine (Q) - tract is called poly Q

normal # of poly Q <35
36-41 poly Q - incomplete penetrance
40-60 poly Q - adult-onset HD
>60 poly Q - juvenile-onset HD (~5%)

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