An n-allele model for progressive amplification in the FMR1 locus.
AUTOR(ES)
Morris, A
RESUMO
An n-allele model is developed for the FMR1 locus, which causes the fragile X syndrome, where n is the number of triplet repeats in the first exon. Frequencies in the general population and in index families are used to generate an n to n + delta transition matrix that predicts specific risks in satisfactory agreement with observation. However, until sequencing distinguishes between stable and unstable alleles with the same value of n, it is premature to infer whether allelic frequencies at the FMR1 locus are at equilibrium or, as some have suggested, are evolving toward higher frequencies of the pathogenic allele.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=41801Documentos Relacionados
- Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.
- Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
- FMR1 triplet arrays: paying the price for perfection
- Análise da expressão do gene FMR1 no ovário
- Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.