Article
Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Apr 2009
Brocklebank D, Gayán J, Andresen J M, Roberts S A, Young A B, Snodgrass S R, Penney J B, Ramos-Arroyo M A, Cha J J, Rosas H D, Hersch S M, Feigin A, Cherny S S, Wexler N S, Housman D E, Cardon L R
Abstract excerpt
The instability of the CAG repeat size of the HD gene when transmitted intergenerationally has critical implications for genetic counseling practices. In particular, CAG repeats between 27 and 35 have been the subject of debate based on small samples. To address this issue, we analyzed allelic instability in the Venezuelan HD kindreds, the largest and most informative families ascertained for HD. We identified...
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