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凝血因子Ⅴ多态性、活性与冠心病关系的研究 被引量:5

Investigation on the relationship between polymorphism of coagulation factor V gene and coronary heart disease
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摘要 目的 探讨凝血因子Ⅴ(FV)与冠心病 (CHD)发病的关系。方法 在 14 1例CHD和 14 5例健康人作对照组 ,运用多聚酶链反应 变性梯度凝胶电泳技术 (PCR DGGE)筛查FV基因全部外显子 ,随机对其中 5 5例CHD和 5 5例健康人对照进行FV活性和APC抵抗 (APCR)的测定 ,并统计分析。结果 发现 5个多态性 :10号外显子 162 8G→A(Arg→Lys)、2号外显子 3 2 7A→G(Gln5 1)、4号外显子 64 2G→T(Ser15 6)、16号外显子 5 3 80G→A(Val→Met)和 13号外显子 4 0 70A→G(His→Arg)。其中 2号外显子 3 2 7A→G(Gln5 1)是首次报道 ,在CHD组和对照组中均未检测到Leiden突变。在CHD组和正常对照组之间162 8G→A(Arg→Lys)多态性等位基因频率差异有极显著性 (P <0 0 1) ,CHD组APCR发生率高于正常对照组 (P <0 0 5 ) ,且 162 8G→A(Arg→Lys)多态性等位基因频率与APCR存在相关性。结论 FV基因162 8G→A(Arg→Lys)多态性与APCR ,CHD发病相关 ,可能是冠心病发病的危险因素之一。 Objective To ascertain the relationship between coagulation factor V (FV) and coronary heart disease (CHD). Methods FV gene was screened by PCR DGGE in 141 cases with CHD and 145 controls, activated protein C resistance (APCR) ratio of FV was measured in 55 cases with CHD and 55 healthy controls by APTT and the number of APCR involvement in each group was documented. Results Eight cases with APCR was detected in CHD group and 4 cases in controls with statistical difference in distribution ( P< 0.05). Genetically, five types of polymorphism were found and the allele frequency of 1628G→A (Arg→Lys) polymorphism differed significantly between the two groups. Allele A1628 was related with lower APCR ratio and more APCR cases ( P< 0 05). Conclusion Arg→Lys polymorphism of FV is associated with APCR and CHD morbidity and it might be a risk factor for CHD in the Chinese population.
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2000年第1期22-26,共5页 Chinese Journal of Cardiology
基金 上海市科委重大课题! ( 9741190 0 3 )
关键词 凝血因子V 冠心病 PCR-DGGE Cagulation factor V Coronary heart disease PCR Denaturing gradient gel electrophoresis Activated protein C resistance
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