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中国人群中抗凝血酶III在蛋白质和DNA水平的多态性研究。

A study of polymorphism of antithrombin III at the level of both protein and DNA in a Chinese population.

作者信息

Gou Q, Hou Y, Zhang Y, Wu M

机构信息

Department of Forensic Biology, West China University of Medical Sciences, Chengdu, PR China.

出版信息

Exp Clin Immunogenet. 1996;13(2):112-6.

PMID:9063703
Abstract

The protein and DNA polymorphisms of human antithrombin III (ATIII) were studied by isoelectric focusing (IEF) and PCR techniques in a Chinese population sample (n = 51). Products of two alleles within the coding region of the ATIII locus were observed by IEF. The allele frequencies were: ATIII1 = 0.9608, ATIII2 = 0.0392. The PCR analysis of the fragment length polymorphism (FLP) for the ATIII 5' locus disclosed two alleles. Their frequencies were: ATIII5'*1 = 0.4118, ATIII 5'*2 = 0.5882. An association analysis between these two ATIII polymorphisms revealed the incompatibility between the ATIII 5'FLP and the ATIII IEF variants, indicating that the ATIII 5' FLP is not responsible for ATIII variants.

摘要

采用等电聚焦(IEF)和聚合酶链反应(PCR)技术,对51例中国人群样本的人抗凝血酶III(ATIII)的蛋白质和DNA多态性进行了研究。通过IEF观察到ATIII基因座编码区内两个等位基因的产物。等位基因频率分别为:ATIII1 = 0.9608,ATIII2 = 0.0392。对ATIII 5'基因座的片段长度多态性(FLP)进行PCR分析,发现了两个等位基因。其频率分别为:ATIII5'*1 = 0.4118,ATIII 5'*2 = 0.5882。对这两种ATIII多态性进行的关联分析显示,ATIII 5'FLP与ATIII IEF变异体不兼容,表明ATIII 5'FLP与ATIII变异体无关。

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