Article
CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.
Journal of the neurological sciences - 1 Nov 1995
Sasaki H, Wakisaka A, Fukazawa T, Iwabuchi K, Hamada T, Takada A, Mukai E, Matsuura T, Yoshiki T, Tashiro K
Abstract excerpt
Machado-Joseph disease (MJD) is caused by abnormal expansion of an unstable CAG repeat in a novel gene locating on chromosome 14q32.1. We analysed this CAG repeat polymorphism with 66 Japanese MJD patients. All the patients were selectively associated with abnormal expansion of the CAG repeat. Re...
Topics
- Adult
- Age of Onset
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 14
- Female
- Humans
- Japan
- Machado-Joseph Disease
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Parents
- Phenotype