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凝血因子Ⅻ基因多态性与急性心肌梗死的关联性研究 被引量:5

Association between coagulation factor Ⅻ gene polymorphisms and acute myocardial infarction
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摘要 目的分析急性心肌梗死(AMI)患者凝血因子Ⅻ(FⅫ)基因多态性和急性发作时血浆凝血因子Ⅻ活性(FⅫ:C)的变化及意义。方法收集97例AMI患者治疗前及76例对照血液标本,采用直接测序法检测FⅫ第46位基因多态性和一期凝固法检测血浆FⅫ:C,并进行比较分析。结果 FⅫ基因C46T多态位点CC、CT、TT 3种基因型以及C、T等位基因频率在AMI组与对照组中的分布均无统计学差异(均P>0.05)。CC、CT和TT 3种基因型分别对应的血浆FⅫ:C水平有统计学差异(P<0.01),以CC组活性最高,TT组活性最低。AMI组血浆FⅫ:C显著低于对照组(P<0.01)。结论 FⅫC46T基因多态性与AMI无关联,AMI发病时血浆FⅫ:C显著降低,FⅫ参与血栓形成。 Objective To investigate the association between genetic polymorphisms of coagulation factor Ⅻ(FXII) with acute myocardial infarction(AMI). Methods The blood samples of 97 cases of AMI patients before treatment and 76 healthy subjects were obtained. The FⅫ C46 T Polymorphism was analyzed by direct sequencing. Plasma coagulation factor Ⅻ activity( FⅫ :C) was measured by one-stage recalcification clotting time assay. The association between FXII gene polymorphism and susceptibility of AMI was analyzed. Results There were no significant differences in FXII C46 T genotype CC, CT, TT distribution and C, T allele frequency between two groups(P〉0.05). Subjects with homozygous T allele showed significantly lower plasma FⅫ:C compared to subjects with homozygous C allele or those with heterozygous C/T allele(P〈0.01). Compared with control group,Plasma FⅫ:C in AMI group was significantly lower(P〈0.01). Conclusion The FⅫ C46 T polymorphism may be not related to AMI, while AMI is associated with reduced plasma FⅫ activities.
出处 《浙江医学》 CAS 2016年第23期1876-1878,共3页 Zhejiang Medical Journal
基金 温州市科技计划项目(Y20140407)
关键词 心肌梗死 凝血因子Ⅻ 基因多态性 Myocardial infarction Factor Ⅻ Gene polymorphism
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  • 1Ohye T, Inagaki H,Kogo H,et al. Paternal origin of the de novo constitutionalt(ll;22)(q23;qll). Eur J Human Genet, 2010, 18:783-787.

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