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

Research output: Contribution to journalArticle

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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 <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.

Original languageEnglish
Pages (from-to)1253-1257
Number of pages5
JournalHuman Molecular Genetics
Volume5
Issue number9
DOIs
Publication statusPublished - Sep 1996
Externally publishedYes

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Atrophic Muscular Disorders
Founder Effect
Chromosomes
X Chromosome
X-Linked Bulbo-Spinal Atrophy
Alleles
Linkage Disequilibrium
Androgen Receptors
Microsatellite Repeats
Mutation
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Tanaka, F., Doyu, M., Ito, Y., Matsumoto, M., Mitsuma, T., Abe, K., ... Sobue, G. (1996). Founder effect in spinal and bulbar muscular atrophy (SBMA). Human Molecular Genetics, 5(9), 1253-1257. https://doi.org/10.1093/hmg/5.9.1253

Founder effect in spinal and bulbar muscular atrophy (SBMA). / Tanaka, Fumiaki; Doyu, Manabu; Ito, Yasuhiro; Matsumoto, Michiyo; Mitsuma, Terunori; Abe, Koji; Aoki, Masashi; Itoyama, Yasuto; Fischbeck, Kenneth H.; Sobue, Gen.

In: Human Molecular Genetics, Vol. 5, No. 9, 09.1996, p. 1253-1257.

Research output: Contribution to journalArticle

Tanaka, F, Doyu, M, Ito, Y, Matsumoto, M, Mitsuma, T, Abe, K, Aoki, M, Itoyama, Y, Fischbeck, KH & Sobue, G 1996, 'Founder effect in spinal and bulbar muscular atrophy (SBMA)', Human Molecular Genetics, vol. 5, no. 9, pp. 1253-1257. https://doi.org/10.1093/hmg/5.9.1253
Tanaka F, Doyu M, Ito Y, Matsumoto M, Mitsuma T, Abe K et al. Founder effect in spinal and bulbar muscular atrophy (SBMA). Human Molecular Genetics. 1996 Sep;5(9):1253-1257. https://doi.org/10.1093/hmg/5.9.1253
Tanaka, Fumiaki ; Doyu, Manabu ; Ito, Yasuhiro ; Matsumoto, Michiyo ; Mitsuma, Terunori ; Abe, Koji ; Aoki, Masashi ; Itoyama, Yasuto ; Fischbeck, Kenneth H. ; Sobue, Gen. / Founder effect in spinal and bulbar muscular atrophy (SBMA). In: Human Molecular Genetics. 1996 ; Vol. 5, No. 9. pp. 1253-1257.
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