中国人动脉血栓性疾病与活化蛋白C裂解FV和FVIII基因位点突变的相关性研究

Studies on Correlations Between Gene Mutations of Factor V,Factor VIII at Sites Cleavaged by Activated Protein C and Chinese Patients with Arterial Thrombotic Diseases

目的 :检测脑血栓 (CT)和急性心肌梗死 (AMI)患者活化蛋白C(APC)抵抗 (APCR)及APC裂解凝血因子V (FV )和凝血因子VIII(FVIII)肽链的基因位点突变。方法 :用单链构象多态性分析 (SSCP)方法 ,检测 10 2例CT、46例AMI和 10 5例健康人的APC裂解FV肽链 (Arg3 0 6、Arg 5 0 6、Arg 679和结合部位 1865～ 1875 )、裂解FVIII肽链 (Arg3 3 6、Arg 5 62和结合部位 2 0 0 5～ 2 0 18)的基因位点。结果 :对照组和患者组均未检出FV的突变基因。结论 :中国人动脉血栓性疾病患者无APC裂解FV和FVIII肽链的基因突变 。

Objective: To investigate the mutations of coagulation factor V and factor VIII at sites cleavaged by activated Protein C and the prevalence of activated protein C resistance(APCR) in chinese patients with cerebral thrombosis(CT) or acute myocardial infarction (AMI). Method: The mutations of factor V at Arg306,Arg 506,Arg679 and combined site 1 865～1 875 and factor VIII at Arg336,Arg 562 and combined site 2 005～2 018 were detected by single strand conformation polymorphism (SSCP). Results: No gene mutations of factor V and factor VIII at the sites mentioned above are discovered in patients with arterial thrombotic diseases. Conclusion: There are no association between arterial thrombotic diseases and factor V gene and factor VIII gene mutations at sites cleavaged by activated protein C.There might exist other factors which contribute to low APC sensitivity in Chinese patients.