Article
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
Human molecular genetics - 1 Sept 1995
Leeflang E P, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald M E, Myers R H, de Young M, Wexler N S, Gusella J F
Abstract excerpt
The CAG triplet repeat region of the Huntington's disease gene was amplified in 923 single sperm from three affected and two normal individuals. Average-size alleles (15-18 repeats) showed only three contraction mutations among 475 sperm (0.6%). A 30 repeat normal allele showed an 11% mutation frequency. The mutation frequency of a 36 repeat intermediate allele was 53% with 8% of all gametes having expansions...
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