Article
Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.
Human genetics - 1 Nov 1993
Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H
Abstract excerpt
The fragile X mutation is the result of amplification in the repeat number of p(CGG)n in FMR-1; alleles with more than 52 repeats have been shown to be so unstable as to mutate in the repeat number in almost every transmission. To improve our understanding of mutations in normal alleles of FMR-1,...
Topics
- Alleles
- Binomial Distribution
- Chi-Square Distribution
- Disease Susceptibility
- Female
- Fragile X Syndrome
- Gene Frequency
- Haplotypes
- Humans
- Intelligence
- Japan
- Linkage Disequilibrium
- Male
- Mutation
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid