遗传流行病学资料显示,血栓形成患者中60％具有家族性。目前,可致高凝状态和静脉血栓形成的遗传缺陷中最普遍的是蛋白C、蛋白S、抗疑血酶Ⅲ和属于因子ⅤLeiden突变的抗活化蛋白C等缺陷。新近,凝血酶原20210A突变被认为是又一种致血栓形成的遗传缺陷。现就凝血酶原20210A突变及其临床意义作一综述。 Genetic epidemiological data show that 60% of patients with thrombosis have familial. At present, the most common genetic defects that cause hypercoagulable state and venous thrombosis are the defects of protein C, protein S, anti-espion III and anti-activated protein C belonging to the factor VLeiden mutation. Recently, the prothrombin 20210A mutation is thought to be another genetic defect that causes thrombosis. Now on the prothrombin 20210A mutation and its clinical significance are reviewed.