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Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations
Author(s) -
Li Xuemin,
Drost Joni B.,
Roberts Stacy,
Kasper Carol,
Sommer Steve S.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200010)16:4<371::aid-humu11>3.0.co;2-p
Subject(s) - biology , germline , genetics , germline mutation , mutation , endogeny , gene , endocrinology
Similar patterns of germline mutations in the factor IX gene ( F9 ) have been observed in certain geographically and racially diverse populations. Germline mutation data have not been available from any region of Africa or from the Black race. Analysis of mutation data for Blacks is of interest, since this race has a high frequency of polymorphism compared to other races. This high frequency has been interpreted as evidence for the “out of Africa” hypothesis for the origin of humans, but it is possible that Blacks have a higher mutation rate due to genetic differences or environmental exposures. We report 26 independent mutations that were detected in patients of mixed races with hemophilia B from South Africa. The pattern of mutation in patients from this African country was similar to that of U.S. Caucasians. In addition, 22 independent mutation were detected in African American patients. The patterns of independent germline mutation in 22 African Americans (and in a combination 34 North American and African Blacks) is similar to that of U.S. Caucasians. Neither genetic differences between the Black and Caucasian races nor environmental and cultural differences between South Africa and the U.S. alter the germline pattern of mutation observed in F9 . Hum Mutat 16:372, 2000. © 2000 Wiley‐Liss, Inc.