PCRRFLP法检测106例脑梗死凝血因子ⅩⅢ Val34Leu基因多态性的的结果分析.docVIP

PCRRFLP法检测106例脑梗死凝血因子ⅩⅢ Val34Leu基因多态性的的结果分析 　　【摘要】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?Ь?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。 　　?ぁ竟丶?词】聚合酶链反应；凝血因子ⅩⅢ；基因突变?? 　　文章编号：1003-1383(2006)03-0237-03 　　中图分类号：R 446.62文献标识码：A?? 　　 　　Analysis of coagulation factor ⅩⅢ Val34leu gene polymorphism in patients ??with cerebral infarction by PCR??RFLP method?? 　　XIE Chun??ying, PAN Chun??yan, TU Chun??qing, ??WU Jian??zeng, YE Guo??qiang, DENG Chun??yan.?? 　　(Department of laboratory science, Baoan Peoples Hospital, Shenzhen, 518101, China)?お? 　　 　　【Abstract】ObjectiveTo establish a method for coagulation factor ⅩⅢ (FⅩⅢ) Val34leu gene polymorphism and study the frequency of genetic mutation in the Chinese Han population. 　　MethodsThe Val34leu genewas 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 FⅩⅢ Val34Leu polymorphism was studied.ResultsThe 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%).Con 　　clusionGene 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. 　　?ぁ?Key words】polymerase chain reaction??restriction; coagulation factorⅩⅢ; gene polymorphism?? 　　 　　凝血因子ⅩⅢ(FⅩⅢ)又称纤维蛋白稳定因子，是一种转谷氨酰胺酶原，在正常止血和伤口愈合过程中起重要作用，激活后的血浆FⅩⅢ是转谷氨酰胺酶，其活性范围大，可能与FⅩⅢ基因多态性有关，而FⅩⅢ基因多态性可能是动、静脉血栓形成的一个保护性遗传因素[1，2]，近年来引起了国内外科学家们的密切关注，国内学者鲜有报道。为了解我国汉族人群FⅩ