Article
Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.
Nature genetics - 1 Aug 1994
Zhang L, Leeflang E P, Yu J, Arnheim N
Abstract excerpt
Trinucleotide repeat mutations of normal alleles at the human androgen receptor locus were studied by typing approximately 4,300 sperm. Control experiments established that the mutation events were of germline origin. The mutation rate for 20-22 repeat alleles was similar to that shown by family analysis. Alleles with 28-31 repeats had a 4.4 times greater rate of mutation with contractions outnumbering...
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