Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia

Roberto Colombo, Anna Carobene

Research output: Contribution to journalArticlepeer-review

Abstract

Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of an intronic GAA repeat. Using linkage disequilibrium analysis based on haplotype data of seven polymorphic markers close to the frataxin gene, the age of FRDA founding mutational event(s) is estimated to be at least 682 ± 203 generations (95% confidence interval: 564-801 g), a dating which is consistent with little or no negative selection and provides further evidence for an ancient spread of a pre-mutation (at-risk alleles) in western Europe.

Original languageEnglish
Pages (from-to)455-458
Number of pages4
JournalHuman Genetics
Volume106
Issue number4
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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