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

@article{Goldstein1999AgeEO,
  title={Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.},
  author={David B Goldstein and David Emile. Reich and Neil N Bradman and Susan M. Usher and Uri Seligsohn and Hava Peretz},
  journal={American journal of human genetics},
  year={1999},
  volume={64 4},
  pages={
          1071-5
        }
}
The type II and type III mutations at the FXI locus, 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… CONTINUE READING

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