凝血酶原G20210A与血栓性疾病的相关性研究  

The association between the mutation 20210G/A in the prothrombin and thrombosis.

作　　者：毕云天[1] 梁万东[1] 张丽岩[2] 罗佳滨[2] 

机构地区：[1]温州医学院分子生物研究中心,生物教研室,325003 [2]佳木斯大学医学院生物教研室

出　　处：《中国优生与遗传杂志》2002年第4期18-19,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的　对正常人及下肢深静脉血栓、脑动脉血栓、心肌梗塞患者凝血酶原 2 0 2 10位点多态性进行分析 ,探讨2 0 2 10A与上述血栓性疾病的关系。方法　采用聚合酶链反应 (PCR)、限制性酶切及电泳分型等方法 ,对疾病对照组的凝血酶原 2 0 2 10位点的多态性进行分析。结果　 (1)在正常人、脑血栓患者、深静脉血栓患者及心肌梗塞患者中凝血酶原 2 0 2 10位点的基因频率 ,符合Hardy -Weinberg平衡定律。 (2 )正常人、下肢深静脉血栓患者、脑血栓患者及心肌梗塞患者中凝血酶原2 0 2 10A基因频率分别是 1 4 7%、8 6 95 %、1 35 %、5 8%。 (3)深静脉血栓组 2 0 2 10A突变基因频率 (0 0 86 95 )显著高于正常对照组 (0 0 14 7,P <0 0 1)。脑动脉血栓组 2 0 2 10A突变基因频率 (0 0 135 )与正常对照组 (0 0 14 7)比较P >0 0 5 ,无显著性差异。心肌梗塞组 2 0 2 10A突变基因频率 (0 0 5 8)显著高于正常对照组 (0 0 14 7,P <0 0 1)。结论　 (1)凝血酶原突变基因 2 0 2 10A在不同种族人群中是普遍存在的 ,并与下肢深静脉血栓的发生有关。 (2 )凝血酶原 2 0 2 10A基因可能不是脑动脉血栓的主要风险因子。 (3)凝血酶原 2 0 2 10A基因与心肌梗塞的发生有相关性 ,它可能也是年纪较轻者发生心肌梗塞的主要风险之一?Objective: To determine the distribution of gene type of 20210G/A of prothrombin and whether it might be implicated in thrombosis. Methods: We used polymerase chain reaction(PCR),restriction enzyme analysis and electrophoresis for this study.Results: 1.The gene frequence of 20210G/A of prothrombin gene on control , deep venous thrombosis , cerebral artery thrombosis and myocardia infarction subjects were in accordance with Hardy-Weinberg laws. 2.The A allele frequencies of prothrombin gene in control , deep venous thrombosis, cerebral artery thrombosis and subjects was 1.47%?8.695%?1.35%?5.8%?3.The gene frequence of 20210G/A of prothrombin gene on deep venous thrombosis(0.08695)was significantly higher than that of control subjects(0.0147).There is no statistical difference in the 20210 site between control and cerebral artery thrombosis subjects. The gene frequence of 20210G/A of prothrombin gene on Myocardial Infarction was significantly higher than that of control subjects. Conclusion:1.The gene mutation in prothrombin is one of main risk factors for deep venous thrombosis and young myocardia infarction.

关 键 词：凝血酶原 基因突变 血栓性疾病 

分 类 号：R363[医药卫生—病理学]