【摘要】 目的探讨中国北方汉族人群急性心肌梗死患者和正常人组织因子途径抑制物(TFPI)基因5′调空区转录起始位点上游-287碱基T>C点突变的发生率及该基因多态性与中国北方汉族人群急性心肌梗死的关系。方法应用病例对照研究的方法,对82例急性心肌梗死患者和110例健康对照者(均来自中国北方汉族人群)外周血提取的DNA样本,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对TFPI-287T>C点突变进行分析。结果T/C单核苷酸多态位点等位基因T、C频率在AMI组和正常对照组分别为0.9634、0.0366和0.9318、0.0682。等位基因频率和基因型频率分布均符合Hardy Weinberg平衡定律。二组间基因型分布无统计学差别,等位基因T、C频率在两组间无显著性差异(P>0.05,OR:0.6,95%CI:0.2~1.3)。结论中国北方汉族人群TFPI-287T>C基因多态性与急性心肌梗死发病无明显相关性。TFPI基因-287T>C点突变不是中国北方汉族人群急性心肌梗死发病的危险因素,中国北方汉族人群TFPI-287T>C等位基因频率非常低。更多还原

【Abstract】 Objective To explore the relation of a T-287C polymorphism in the 5′regulation region of tissue factor pathway inhibitor(TFPI) gene and acute myocardial infarction(AMI) in Hans of Northern China.Methods Eigty-two myocardial infarction patients(63 males and 19 females) recruited from the First Clinical College of Harbin Medical University during 2002～2004(AMI group).The control group consists of 110 presumably healthy subjects(82 males and 28 females) from routine health survey.All subjects were from Heilongjiang province and of the Han nationality.A polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) assay was applied to analyse the TFPI T-287C polymorphism.Results The TFPI T-287C alleles frequencies of the AMI group and control healthy group were 0.9634,0.0366 and 0.9318,0.0682,respectively.The allele frequencies and genotype frequencies were consistent with the Hardy Weinberg law of equilibrium.There was no significant difference of allele frequencies and genotype frequencies between the two groups(P>0.05,OR:0.6,95% CI:0.2～1.3).Conclusion There was no correlation between a T>287C polymorphism in the 5′ regulation region of the TFPI gene and AMI in Hans of Northern China.The mutation of TFPI T>287C gene was not the risk factor of AMI in Hans of Northern China,the frequencies of TFPI T>287C alleles was wery low in Hans of Northern China.更多还原