Article
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.
Human molecular genetics - 1 Feb 1997
Chong S S, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg Y P, Haddad B R, Richards F, Sillence D, Greenberg C R, Ives E, Van den Engh G, Hughes M R, Hayden M R
Abstract excerpt
New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG mutation frequencies for four IAs in families with sporadic HD (IANM) and IAs ascertained from the general population (IAGP) by analyzing 1161 single sperm from three...
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