凝血因子V基因点突变1691　A在不同种族人群中的分布  

DISTRIBUTION OF COAGULATION FACTOR V GENE MUTATION 1691 A IN POPULATIONS OF DIFFERENT RACES

作　　者：罗佳滨[1] 关月[1] 马洪星[1] 李少英[1] 李月秋[1] 吕学诜[1] 

机构地区：[1]黑龙江省佳木斯医学院生物教研室

出　　处：《中华医学遗传学杂志》1996年第4期219-220,共2页Chinese Journal of Medical Genetics

摘　　要：凝血因子Ｖ（ｃｏａｇｕｌａｔｉｏｎｆａｃｔｏｒＶ）在凝血过程中是一种重要的辅因子，其基因中一个点突变１６９１（Ｇ→Ａ），使它对抗凝血系统中的一种血浆蛋白质Ｃ（ＡＰＣ）的失活作用产生抗性，从而使血栓发生风险增大。本文在５３例美国白人，９６例美国黑人，４２５例墨西哥人和１０２例中国人群体中进行了检测，发现突变基因１６９１Ａ的杂合子，其中美国白人１例，墨西哥人８例，中国人２例。有发现突变纯合子。Coagulation factor V is an important cofactor during coagulation.A single point mutation 1691(G→A)in the factor V gene leads resistance to the inactivation affected by APC of the anticoagulation system and thus increases the thrombotic risk.The present study is aimed at the distribution of coagulation factor V gene mutation 1691 A in populations of different races.We examined the mutant gene 1691 A in 53 cases of American white population,96 cases of American black population,425 cases of Mexican population and 102 cases of Chinese population.The mutant beterozygotes were found in 1 case in American White,8 cases in Mexican,2 cases in Chinese.No mutant homozygote was found.

关 键 词：凝血因子V 基因突变 血栓形成 

分 类 号：R364.15[医药卫生—病理学]