PCR-RFLP法检测106例脑梗死凝血因子Ⅹ Ⅲ Val34Leu基因多态性结果分析

Analysis of coagulation factor Ⅹ Ⅲ Val34leu gene polymorphism in patients with cerebral infarction by PCR-RFLP method

目的研究凝血因子ⅩⅢVal34Leu基因多态性的检测方法,了解该基因突变在中国汉族人群中的分布频率。方法应用聚合酶链反应(PCR)技术结合Hin6I酶切分析、琼脂糖凝胶电泳确定基因型,对106例汉族脑梗死患者及120例正常人进行检测,分析凝血因子ⅩⅢVal34Leu基因多态性特点。结果脑梗死组Val34Leu杂合突变频率为3.8%,正常对照组为1.7%,两组间基因型频率分布无统计学差异(P均>0.05)。结论脑梗死患者凝血因子ⅩⅢVal34Leu基因突变频率与正常人群无显著性差异,建立的PCR-RFLP方法适用于凝血因子ⅩⅢVal34Leu基因突变的检测。

Objective To establish a method for coagulation factor ⅩⅢ （FⅩⅢ） Val34leu gene polymorphism and study the frequency of genetic mutation in the Chinese Han population. Methods The Val34leu gene was detected by combining the polymerase chain reaction （PCR） with Hin6I enzyme analysis and agarose gel electrophoresis in 106 patients with cerebral infarction and 120 normal controls. The characteristic of F ⅩⅢ Val34Leu polymorphism was studied. Results The Val34Leu heterozygote frequency in cerebral in fraction group and normal group was 3.8 % and 1.7 % respectively. The genetype frequency between the two groups had no difference. The gene frequency of Leu34 allele was 0.8%, which was lower than that of white people （27%）. Conclusion Gene mutation of Val34Leu polymorphism has some differences in races or region. The polymerase chain reaction-restriction of fragment length polymorphism （PCR-RFLP） methods is suitable for detection of FⅩⅢ Val34Leu gene mutation.