Founder effect in spinal and bulbar muscular atrophy (SBMA)
Open Access
- 1 September 1996
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 5 (9) , 1253-1257
- https://doi.org/10.1093/hmg/5.9.1253
Abstract
We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 ± 3 with a range from 14–32 repeat units, and SBMA chromosomes had a range from 40–55 with a median of 47 ± 3 copies. The control chromosomes had seven different alleles of the (GGC)n repeat with the range of 11 to 17; the most frequent size of (GGC)n was 16 (79%), while (GGC)17 was very rare (1%). However, in SBMA chromosomes only two alleles were seen; the most frequent size of (GGC)n was 16 (61%) followed by 17 (39%). (GGC)n size distribution was significantly different between SBMA and control chromosomes (P n and (GGC)n microsatellites among control subjects as well as SBMA patients, which suggests that a founder effect makes a more significant contribution to generation of Japanese SBMA chromosomes than new mutations.Keywords
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