An n-allele model for progressive amplification in the FMR1 locus

Proc Natl Acad Sci U S A. 1995 May 23;92(11):4833-7. doi: 10.1073/pnas.92.11.4833.

Abstract

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.

Publication types

  • Comparative Study

MeSH terms

  • Alleles*
  • Exons
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Gene Amplification*
  • Humans
  • Models, Genetic*
  • Models, Theoretical
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Probability
  • RNA-Binding Proteins / genetics
  • Repetitive Sequences, Nucleic Acid

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein