人类抗凝血酶Ⅲ蛋白质和DNA多态性的相互关系初探

PRELIMINARY STUDIES ON THE RELATIONSHIP BETWEEN PROTEIN AND DNA POLYMORPHISM OF HUMAN ANTITHROMBIN Ⅲ

为了解人类抗凝血酶Ⅲ蛋白质和ＤＮＡ多态性的相互关系，对５１名正常健康无血缘关系的中国蒙古地区的配对血浆ＤＮＡ样本进行了抗凝血酶Ⅲ（ＡＴⅢ）ＩＥＦ表型测定和ＡＴⅢ５＇基因座ＰＣＥ扩增片段长度多态性分析。结果显示：ＡＴⅢ变异体和ＡＴⅢ５＇基因座扩增片段长度多态性相互独立。提示：ＡＴⅢ５＇基因座长度多态性不是产生ＡＴⅢ变异体的分子生物学基础。

The protein and DNA polymorphisms of human antithrombin Ⅲ(ATⅢ) were studied by IEF and PCR techniques from a Chinese population sample (n=51).Products of two alleles within coding region of AT Ⅲ Iocus were observed by IEF and the allele frequencies were: ATⅢ 1=0.9608,AT Ⅲ2=0.0391.The PCR analysis of the fragment length polymorphism for ATⅢ5' locus disclosed two alleles and their frequencies:ATⅢ5'1=0.4118,ATⅢ5'2=0.5882.An association analysis between these two ATⅢ polymorphisms revealed the incompatibility between the ATⅢ5' FLP and the ATⅢ IEF variants,indicating that the AⅢ5' FLP is not responsible for ATⅢ variants.