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中国心肌梗死人群凝血因子V Leiden突变检测

Detection of mutstions of coagulation factor V gene in a Chinese population with myocardial infarction
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摘要 目的对中国心肌梗死人群进行凝血因子V(FV)基因突变检测.方法在50例心肌梗死患者和 100例正常对照者中,运用多聚酶链反应一变性梯度凝胶电泳技术(PCR-DGGE)检测FV基因Leiden突变所在的10号外显子。结果未检测到Leiden突变,但发现10号外显子存在一个新的多态性1628G→A(Arg→Lys),此多态性为首次报道,且频率在心梗组和对照组间有极显著差异。结论中国人群中不存在Leiden突变,但1628G→A多态性可能是中国人群冠心病心梗发病的危险因素。 To detect mutations of coagulation factor V (FV) gene in a Chinese population with myocardial infarction. Methods in 50 patients with myocardial infarction and 100 normal controls, PCR-DGGE was dopted to screen the exon 10 of FV gene, in which the Leiden mutation existed. Results No Leiden mutation was found, while a novel polymorphism, 1628G→A (Arg→Lys) was demonstrated in the same exon and it is the first time to report here. Statistically) the frequency of the novel polymorphism differed significantly between the myocardial infarction group and control group. Conclusion it is indicated that there is no Leiden mutation in Chinese population; however, 1628G→A might be a risk factor for coronary artery disease in Chinese.
出处 《中国实验诊断学》 1998年第5期252-253,共2页 Chinese Journal of Laboratory Diagnosis
基金 上海市科委重大课题资助
关键词 凝血因子V 心肌梗塞 多态性 PCR 危险因素 Coagulation factor V, Myocardial infarction, Polymorphism, PCR-Denaturing Gradient Gel Electrophoresis
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  • 1Lin S R,Br U Haematol,1995年,91卷,722页
  • 2Lin S W,Genomics,1993年,18卷,1页

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