Document Detail


Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan.
MedLine Citation:
PMID:  18068007     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Huntington's disease (HD) is a hereditary autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. The molecular basis of the disease is the expansion of the trinucleotide CAG in the first exon of a gene on chromosome four (4p 16.3). There is another triplet sequence, a CCG repeat, immediately 3' adjacent to the CAG repeat in Huntingtin. This triplet sequence is also polymorphic, alleles of 7 or 10 repeats are predominant in populations, and strong linkage disequilibrium between the CCG (7) allele and HD has been shown in western HD chromosomes, whereas Japanese HD chromosomes strongly associate with an allele of (CCG)10.
METHODS: Distribution of CAG and the CCG repeats in Huntingtin in 15 patients with HD living in southern Japan were selected to evaluate the regional difference in the CCG repeat number in Japan.
RESULTS: Among our 15 HD patients, only 4 patients had the (CCG)7 allele, and the (CCG)10 alleles were found in the remaining 11 patients.
CONCLUSIONS: In this study, a linkage disequilibrium was found between Japanese HD chromosomes and (CCG)10, whereas western HD chromosomes are strongly associated with (CCG)7. These data suggest that (CCG)10 allele is dominant in southern Japan.
Authors:
Saeid Morovvati; Masanori Nakagawa; Mitsuhiro Osame; Ali Karami
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Publication Detail:
Type:  Journal Article     Date:  2007-08-23
Journal Detail:
Title:  Archives of medical research     Volume:  39     ISSN:  0188-4409     ISO Abbreviation:  Arch. Med. Res.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2007-12-10     Completed Date:  2008-03-27     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  9312706     Medline TA:  Arch Med Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  131-3     Citation Subset:  IM    
Affiliation:
Research Center of Molecular Biology, Baqiyatallah Medical Sciences University, Tehran, Iran. morovvati@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Asian Continental Ancestry Group / genetics*
Cytosine / chemistry
Female
Gene Frequency
Guanine / chemistry
Humans
Huntington Disease / genetics*
Japan
Linkage Disequilibrium
Male
Nerve Tissue Proteins / genetics*
Nuclear Proteins / genetics*
Population
Trinucleotide Repeat Expansion / genetics*
Chemical
Reg. No./Substance:
0/HTT protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 71-30-7/Cytosine; 73-40-5/Guanine

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


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