蛋白S基因突变致静脉血栓的研究进展

蛋白S是抗凝血过程中重要的辅因子,它可加速活化蛋白C灭活因子Ⅴa、Ⅷa。丝氨酸460被脯氨酸替代是蛋白S缺陷最普遍的原因,蛋白S基因缺陷可导致血栓形成的危险性明显增加。现对蛋白S的结构和生物学功能,遗传性蛋白S缺陷症的分子发病机制、分型、诊断及其与静脉血栓的关系予以综述。

Progress of Research in Protein S Mutation Induced Deep Venous Thromboembolism

Protein S(PS)is a co-factor of anti-coagulation,which can accelerate the degradation of factor Ⅴa and Ⅷa with APC.The defect of protein S increases the risk of thrombosis.The decrease of PS activation weakens the anticoagulation of PC system,therefore increasing the risk of thromboembolism.This article reviews the structure,biological function of PS,the molecular pathogenesis of congenital PS deficiency,genotypes,diagnosis,and the relationship with venous thromboembolism.