TY - JOUR
T1 - Age estimates of two common mutations causing factor XI deficiency
T2 - Recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews
AU - Goldstein, David B.
AU - Reich, David E.
AU - Bradman, Neil
AU - Usher, Sali
AU - Seligsohn, Uri
AU - Peretz, Hava
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0033358085&partnerID=8YFLogxK
U2 - 10.1086/302313
DO - 10.1086/302313
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C2 - 10090892
AN - SCOPUS:0033358085
SN - 0002-9297
VL - 64
SP - 1071
EP - 1075
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -