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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

CAG repeat length variation in sperm from a patient with Kennedy's disease.

Using a modified sperm typing protocol, the mutation frequency of the CAG repeat region at the androgen receptor locus has been measured using a rare semen sample from an individual with spinal and bulbar muscular atrophy (SBMA). Among 258 X chromosome-containing sperm, 19% had a repeat number equal to the donor's somatic DNA (47 repeats), 66% were expansions and 15% were contractions. The average expansion was 2.7 repeats. More than half of the expansions involved one or two repeats; the largest was 11 repeats. 68% of the contractions were also one or two repeats but six (16%) were very large (12-25 repeats). One contraction generated an allele in an intermediate size range (33-39 repeats). Such alleles have not been observed among more than 900 normal and SBMA X-chromosomes that have been examined. Comparison of the SBMA sperm typing results with mutation frequency data on normal alleles supports the hypothesis that trinucleotide repeat expansions may have a different molecular origin than contractions.[1]


  1. CAG repeat length variation in sperm from a patient with Kennedy's disease. Zhang, L., Fischbeck, K.H., Arnheim, N. Hum. Mol. Genet. (1995) [Pubmed]
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