These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: [Molecular genetics of Huntington's disease]. Author: Goto J, Masuda N, Watanabe M, Kanazawa I. Journal: Rinsho Shinkeigaku; 1995 Dec; 35(12):1529-31. PubMed ID: 8752453. Abstract: Huntington's disease (HD) is a progressive neurodegenerative disorder which is clinically characterized by chorea, cognitive decline, and emotional disturbance; it is inherited in an autosomal dominant manner. The HD gene maps to chromosome 4p16.3. Our linkage analysis demonstrated a significant genetic linkage between Japanese HD families and the flanking markers, D4S127, D4S43. The molecular basis of the disease is an expansion of CAG repeat in the huntingtin gene. We performed molecular analysis of the repeat in Japanese HD patients and normal controls. 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. Striking linkage disequilibrium was found between the CAG repeat expansion and an allele of (CCG)10 in Japanese HD chromosome. It is distinct from that described previously in western populations. Western HD chromosomes strongly associate with an allele of (CCG)7.[Abstract] [Full Text] [Related] [New Search]