Document Detail


Founder effect in spinal and bulbar muscular atrophy (SBMA).
MedLine Citation:
PMID:  8872464     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
F Tanaka; M Doyu; Y Ito; M Matsumoto; T Mitsuma; K Abe; M Aoki; Y Itoyama; K H Fischbeck; G Sobue
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  5     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1996 Sep 
Date Detail:
Created Date:  1997-01-08     Completed Date:  1997-01-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1253-7     Citation Subset:  IM    
Affiliation:
Department of Neurology, Nagoya University School of Medicine, Japan.
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MeSH Terms
Descriptor/Qualifier:
Humans
Linkage (Genetics) / genetics
Motor Neuron Disease / genetics*
Muscular Atrophy / genetics*
Mutation
Receptors, Androgen / genetics
Repetitive Sequences, Nucleic Acid
Chemical
Reg. No./Substance:
0/Receptors, Androgen

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