Document Detail


Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.
MedLine Citation:
PMID:  7473647     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Spinocerebellar ataxia 1 (SCA1) is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. Precise mapping has shown a positional relationship to closely linked markers in the order of D6S109-D6S274-D6S288-SCA1-AM10GA-D6S89+ ++-EDN1 from centromere to telomere. The haplotype which cosegregated with the disease was determined in 12 Japanese pedigrees with SCA1. Although the alleles of the SCA1 haplotype varied from pedigree to pedigree, depending on the distance from the SCA1 locus, the affected and presymptomatic subjects carried the same alleles at D6S288 and D6S274. All the families with SCA1 had migrated from either Miyagi or Yamagata Prefectures, neighbouring areas in the Tohoku District, the northern part of Honshu which is the main island of Japan. It seems highly likely that SCA1 in the Japanese, at least those residing in Hokkaido, derives from a single common ancestry.
Authors:
A Wakisaka; H Sasaki; A Takada; T Fukazawa; Y Suzuki; T Hamada; K Iwabuchi; K Tashiro; T Yoshiki
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  32     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1995 Aug 
Date Detail:
Created Date:  1995-12-07     Completed Date:  1995-12-07     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  590-2     Citation Subset:  IM    
Affiliation:
Department of Pathology, Hokkaido University School of Medicine, Sapporo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 6*
Female
Haplotypes
Humans
Japan
Linkage Disequilibrium
Male
Pedigree
Repetitive Sequences, Nucleic Acid
Spinocerebellar Degenerations / epidemiology,  genetics*
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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