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目的:探索凝血因子XIIIVal34Leu多态性与汉族人群缺血性心、脑血管疾病的关系。方法:2002-06/2003-12深圳市宝安人民医院神经内科及心内科,采用PCR扩增112例脑梗死、63例心肌梗死患者及130例正常人的凝血因子XIIIVal34Leu突变点,经Hin6I酶切消化后行3%琼脂糖凝胶电泳确定基因型。结果:在脑梗死组中发现4例(3.6%)Val34Leu杂合子,心肌梗死组未发现Val34Leu突变,正常对照组发现2例(1.5%)Val34Leu杂合子。正常汉族人群Leu34等位基因频率(0.8%)较白种人(27%)低;凝血因子XIIIVal34Leu的各基因型频率在患者组与正常对照组之间的差异无显著性意义。结论:凝血因子XIIIVal34Leu基因变异存在一定的人种或地域差异;凝血因子XIIIVal34Leu基因变异不足以成为汉族人群缺血性心、脑血管疾病的保护性遗传因素。
Objective: To explore the relationship between coagulation factor XIIIVal34Leu polymorphism and ischemic cardiovascular and cerebrovascular diseases in Han nationality. METHODS: From June 2002 to December 2003, Department of Neurology and Cardiology, Bao’an People’s Hospital of Shenzhen City, 112 cases of cerebral infarction, 63 cases of myocardial infarction and 130 normal subjects were enrolled in this study. Factor XIIIVal34Leu mutation was detected by Hin6I After digestion 3% agarose gel electrophoresis to determine the genotype. RESULTS: Four cases (3.6%) of Val34Leu heterozygotes were found in cerebral infarction group. Val34Leu mutation was not found in myocardial infarction group. Two cases (1.5%) of Val34Leu heterozygote were found in normal control group. The frequency of Leu34 allele (0.8%) in normal Han population was lower than that in Caucasians (27%). The genotype frequency of coagulation factor XIIIVal34Leu was not significantly different between patients and controls. Conclusion: Variation of factor XIIIVal34Leu has some ethnic or regional differences. The variation of factor XIIIVal34Leu is not enough to be a protective genetic factor for ischemic heart and cerebrovascular diseases in Han population.