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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

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【作者】 罗佳滨关月马洪星李少英李月秋吕学诜

【Author】 Lou Jiabin;Guan Yue;Ma Hongxin;et al.(Department of Biology,Jiamusi Medical College,Jiamusi 154002)

【机构】 黑龙江省佳木斯医学院生物教研室

【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。

【Abstract】 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
【Key words】 Coagulation factor V Gene mutant Thrombus
  • 【文献出处】 中华医学遗传学杂志 ,CHINESE JOURNAL OF MEDICAL CENETICS , 编辑部邮箱 ,1996年04期
  • 【分类号】R394.3
  • 【被引频次】29
  • 【下载频次】87
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