Article
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
American journal of human genetics - 1 Jun 1994
Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, Giunti P, Morocutti C, Terrenato L, Harding A E, Frontali M
Abstract excerpt
Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent plays a major role in the size distribution of expanded alleles, those...
Topics
- Adult
- Base Sequence
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Parents
- Phenotype
- Polymorphism, Genetic