Article
Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleitide repeat expansion and instability of the repeat for paternal transmission.
The Japanese journal of human genetics - 1 Mar 1995
Suzuki Y, Sasaki H, Wakisaka A, Takada A, Yoshiki T, Iwabuchi K, Tashiro K, Fukazawa T, Hamada T
Abstract excerpt
SCA1 is caused by expansion of an unstable CAG triplet repeat in a novel gene located on the short arm of chromosome 6. In 126 Japanese individuals from 12 pedigrees with SCA1, studies were done to determine if they carried this mutant gene. All the affected and pre-symptomatic individuals, determined by haplotype segregation analyses, carried an abnormally expanded allele with the range of 39-63 repeat units....
Topics
- Adolescent
- Adult
- Alleles
- Asian People
- Base Sequence
- Female
- Humans
- Japan
- Male
- Middle Aged
- Molecular Sequence Data