Journal
HUMAN GENETICS
Volume 106, Issue 4, Pages 455-458Publisher
SPRINGER
DOI: 10.1007/s004390000261
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Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansion of un 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: 564-80 l g), a dating which is consistent with little or no negative selection and provides further evidence for an ancient spread of a pro-mutation (at-risk alleles) in western Europe.
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