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The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
Author(s) -
Liu JingZhong,
Li Xuemin,
Drost Joni,
Thorland Erik C.,
Liu Qiang,
Lind Tammy,
Roberts Stacy,
Wang H.Y.,
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(200007)16:1<31::aid-humu6>3.0.co;2-i
Subject(s) - biology , genetics , mutagen , germline , germline mutation , mutation , gene , carcinogen
Germline mutations are the major source of genetic variation that allows a species to evolve over time but at the cost of Mendelian disease and genetic predisposition to multifactorial diseases. Previous analyses have revealed that the pattern of germline mutations in the factor IX gene ( F9 ) is similar among a variety of ethnically and geographically diverse populations and compatible with the ancient pattern that has shaped the mammalian genome. Here, we compare the pattern of germline mutation in a population of hemophilia B patients from Mainland China (n=66) to that in U.S. Caucasians, Blacks, and Mexican Hispanics and stratify by disease severity and ethnicity. The similar pattern of germline mutation in all ethnic groups studied to date provides additional data compatible with the inference that endogenous processes predominate in germline mutations. Hum Mutat 16:31–36, 2000. © 2000 Wiley‐Liss, Inc.