Founder effect in spinal and bulbar muscular atrophy (SBMA)

Fumiaki Tanaka, Manabu Doyu, Yasuhiro Ito, Michiyo Matsumoto, Terunori Mitsuma, Koji Abe, Masashi Aoki, Yasuto Itoyama, Kenneth H. Fischbeck, Gen Sobue

研究成果: ジャーナルへの寄稿学術論文査読

85 被引用数 (Scopus)

抄録

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 < 0.0001), indicating the presence of linkage disequilibrium. There was no allelic association between the (CAG)(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.

本文言語英語
ページ(範囲)1253-1257
ページ数5
ジャーナルHuman Molecular Genetics
5
9
DOI
出版ステータス出版済み - 1996 9月

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