Age estimates of two common mutations causing factor XI deficiency: Recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews

David B. Goldstein, David E. Reich, Neil Bradman, Sali Usher, Uri Seligsohn, Hava Peretz

Research output: Contribution to journalArticlepeer-review

Abstract

The type II and type III mutations at the FXIlocus, which cause coagulation factor XI deficiency, have high frequencies in Jewish populations. The type III mutation is largely restricted to Ashkenazi Jews, but the type II mutation is observed at high frequency in both Ashkenazi and Iraqi Jews, suggesting the possibility that the mutation appeared before the separation of these communities. Here we report estimates of the ages of the type II and type III mutations, based on the observed distribution of allelic variants at a flanking microsatellite marker (D45171). The results are consistent with a recent origin for the type III mutation but suggest that the type II mutation appeared >120 generations ago. This finding demonstrates that the high frequency of the type II mutation among Jews is independent of the demographic upheavals among Ashkenazi Jews in the 16th and 17th centuries.

Original languageEnglish
Pages (from-to)1071-1075
Number of pages5
JournalAmerican Journal of Human Genetics
Volume64
Issue number4
DOIs
StatePublished - 1999
Externally publishedYes

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