Repository of Research and Investigative Information

Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan

(2008) Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan. Archives of Medical Research. pp. 131-133. ISSN 0188-4409

Full text not available from this repository.

Official URL:


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. (C) 2008 IMSS. Published by Elsevier Inc.

Item Type: Article
Keywords: Huntington's disease CCG repeat CAG repeat Japanese population disease chromosomes trinucleotide repeat cag polymorphism evolution families reveals origins Research & Experimental Medicine
Page Range: pp. 131-133
Journal or Publication Title: Archives of Medical Research
Journal Index: ISI
Volume: 39
Number: 1
Identification Number:
ISSN: 0188-4409
Depositing User: مهندس مهدی شریفی

Actions (login required)

View Item View Item