凝血因子Ⅷ基因Val 34 Leu突变与脑梗死关系的研究

A study of the relationship between cerebral infarction and mutation of factor Ⅷ Val 34 Leu

目的 观察中国陕西汉族人群中凝血因子 (F )基因Val34Leu的变异 ,并探讨其与脑梗死发病的关系。方法 收集 6 5例陕西地区汉族脑梗死患者和 6 5名健康体检者的外周静脉血 ;采用酚 氯仿抽提技术提取基因组DNA ,聚合酶链反应 单链构象多态性分析与随机测序的方法检测基因的突变。结果 脑梗死组与健康对照组均不存在FVal34Leu的突变。结论 (1)中国陕西地区乃至中国的汉族人群中FVal34Leu的突变频率很低 ;(2 )

Objective To observe the mutation of factor (F) Val 34 Leu gene of Chinese, and to evaluate its roles in the pathogenesis of cerebral infarction in Han nationality in Shanxi province.Methods The blood samples were drawn from 65 cerebral infarction patients and 65 healthy subjects and DNA was extracted using traditional phenol-chal methods. The mutation of F Val 34 Leu was detected by polymerase chain reaction single strand conformation polymorphismanalysis(PCR-SSCP) method and random sequencing.Results No mutation of F Val 34 Leu was found in these 65 patients and 65 healthy controls.Conclusion F Val 34 Leu mutation is very low in Han nationality in China. It is not the same as a hot point of gene mutation in Euramerican Caucasian.