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• W1973166613 startingPage "211" @default.
• W1973166613 abstract "Asian and non-Asian populations have been reported to differ substantially in the distribution of fragile X alleles into the normal (< 55 CGG repeats), premutation (55–199 CGG repeats), and full-mutation (> 199 CGG repeats) size classes. Our statistical analyses of data from published general-population studies confirm that Asian populations have markedly lower frequencies of premutation alleles, reminiscent of earlier findings for expanded alleles at the Huntington’s Disease locus. To examine historical and contemporary factors that may have shaped and now sustain allele-frequency differences at the fragile X locus, we develop a population-genetic/epigenetic model, and apply it to these published data. We find that founder-haplotype effects likely contribute to observed frequency differences via substantially lower mutation rates in Asian populations. By contrast, any premutation frequency differences present in founder populations would have disappeared in the several millennia since initial establishment of these groups. Differences in the reproductive fitness of female premutation carriers arising from fragile X primary ovarian insufficiency (FXPOI) and from differences in mean maternal age may also contribute to global variation in carrier frequencies." @default.
• W1973166613 created "2016-06-24" @default.
• W1973166613 creator A5053858033 @default.
• W1973166613 creator A5070917507 @default.
• W1973166613 date "2013-01-01" @default.
• W1973166613 modified "2023-10-06" @default.
• W1973166613 title "Why do fragile X carrier frequencies differ between Asian and non-Asian populations?" @default.
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• W1973166613 doi "https://doi.org/10.1266/ggs.88.211" @default.
• W1973166613 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24025249" @default.
• W1973166613 hasPublicationYear "2013" @default.
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