Article
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.
American journal of human genetics - 1 Aug 1993
Kwiatkowski T J, Orr H T, Banfi S, McCall A E, Jodice C, Persichetti F, Novelletto A, LeBorgne-DeMarquoy F, Duvick L A, Frontali M
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder which is genetically linked to the short arm of chromosome 6, telomeric to the human major histocompatibility complex (HLA) and very close to D6S89. Previous multipoint linkage analysis using HLA, D6S89, and SCA1 suggested tha...
Topics
- Adult
- Alleles
- Base Sequence
- Centromere
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 6
- Cloning, Molecular
- Genetic Linkage
- Genetic Markers
- Humans
- Lod Score
- Molecular Sequence Data
- Polymerase Chain Reaction