凝血酶原G20210基因多态性与中国汉族人群肺血栓栓塞症的相关性

The Correlation between Prothrombin G20210 Gene Polymophism and Pulmonary Thromboembolism in Chinese Han Population

目的探讨凝血酶原基因3’端非翻译区20210 G/A多态性与中国汉族人群肺血栓栓塞症(PTE)发生的相关性。方法采用病例-对照研究,病例组为经放射性核素肺通气/灌注显像和(或)螺旋CT肺动脉造影(CTPA)检查,并结合临床资料确诊的PTE患者101例;对照组为与PTE患者来自相同地区,性别、年龄相匹配的健康对照101例。应用碘化钾-氯仿-异丙醇法提取基因组。应用聚合酶链反应(PCR)、HindⅢ限制性内切酶片段长度多态性分析(RFLP)及聚丙烯酰胺凝胶电泳(PAGE)等方法检测凝血酶原G20210多态性。结果健康对照人群GⅡ20210A位点的基因频率符合Hardy-Weinberg平衡定律,PTE病例组及对照组GⅡ20210A位点均为野生型(GG)纯合子,GA、AA基因型频率为0,A等位基因频率为0。结论凝血酶原G20210A基因多态性与中国汉族人群PTE发生可能无关。

Objective To determine the prevalence of prothrombin G20210 gene polymophism in Chinese Han population and investigate whether it is associated with the risk of pulmonary thromboembolism（PTE）. Methods One hundred one PTE patients and 101 age and sex-matehed healthy controls from the same geographic area were enrolled in the study. All patients were diagnosed on the basis of lung ventilation/pertusion scan and/or multi-slice CT pulmonary angiography（CTPA） as well as medical history and clinical manifestations Genome DNA was extracted from whole blood using KI-phenol-chloroform. Polymerase chain reaction （PCR）, restriction enzyme digestion and polyacrylarnide Gel Electrophoresis（PAGE） were used to identify the G20210A mutation. Results Prothrombin gene G20210A mutation was not found in both PTE patients and controls. Conclusion Prothrombin gene G20210A mutation is not associated with PTE risk in Chinese Han populations.