Document Detail

Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.
MedLine Citation:
PMID:  8544189     Owner:  NLM     Status:  MEDLINE    
Huntington's disease (HD) is associated with the expansion of a CAG repeat in the huntingtin gene. Molecular analysis of the repeat in Japanese HD patients and normal controls was performed. The size of the CAG repeat ranged from 37 to 95 repeats in affected subjects and from seven to 29 in normal controls. A significant correlation was found between the age of onset and the CAG expansion. The length of the expanded repeat is unstable in meiotic transmission and large increases occur in paternal transmission. At the same time the CCG repeat polymorphism adjacent to the CAG repeat was analysed and haplotypes of HD chromosomes were identified. Strong linkage disequilibrium was found between the CAG repeat expansion and an allele of (CCG)10 in Japanese HD chromosomes. It is distinct from that described previously in western populations. Western HD chromosomes strongly associate with an allele of (CCG)7. Possible mechanisms underlying the disequilibrium in Japan are discussed.
N Masuda; J Goto; N Murayama; M Watanabe; I Kondo; I Kanazawa
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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 Sep 
Date Detail:
Created Date:  1996-02-13     Completed Date:  1996-02-13     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  701-5     Citation Subset:  IM    
Department of Clinical Neurology and Neuroscience, Faculty of Medicine, University of Tokyo, Japan.
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MeSH Terms
Age of Onset
Base Sequence
DNA / isolation & purification
DNA Mutational Analysis
Huntington Disease / genetics*
Linkage Disequilibrium
Molecular Sequence Data
Nerve Tissue Proteins / genetics*
Nuclear Proteins / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic
Trinucleotide Repeats / genetics*
Reg. No./Substance:
0/HTT protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 9007-49-2/DNA

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

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