α-纤维蛋白原基因多态性与肺动脉栓塞相关性初探

目的探讨α-纤维蛋白原Thr312Ala基因的多态性分布与肺动脉栓塞的相关性。方法选取尸检已确诊的肺动脉栓塞病例的甲醛固定心肌组织14例和正常健康人群外周血56例,采用改良酚-氯仿法和Chelex100法分别提取心肌组织和外周静脉血基因组DNA,用PCR-RFLP法检测α-纤维蛋白原基因Thr312Ala多态性,并分析其与肺动脉栓塞的关联性。结果α-纤维蛋白原Thr312Ala基因的各基因型在肺动脉栓塞组与对照组比较差异具有显著性意义（P〈0.05）;各等位基因在两组间比较差异具有显著性意义（P〈0.05）;A等位基因与PE呈负相关（RR=0.475,P〈0.05）;G等位基因与PE呈正相关（RR=5.818,P〈0.05）。结论α-纤维蛋白原基因Thr312Ala位点G等位基因与肺动脉栓塞有正关联,肺动脉栓塞死亡者中GA、GG基因型分布频率较高,本文数据可为相关研究提供参考。

A pilot study of pulmonary embolism with Thr312Ala polymorphism of fibrinogen gene

Objective To study the correlation relationship between the pulmonary embolism and the Thr312Ala polymorphism fibrinogen gene. Methods PCR-RFLP and agarose gel electrophoresis were used to examine thr312Ala polymorphism in the heart tissues of 14 cases with formalin-fixed myocardial tissue of pulmonary embolism autopsy and peripheral blood of 56 in control group, then the relationship between PE and gene Polymorphisms were analysis of variance and logistic. Results The genotype of Thr312Ala polymorphism fibrinogen gene maybe play a part role in the PE disease, there is a significant difference of genotype of Thr312Ala between the people who suffer from PE and the normal people. And the A allele was negatively with PE （RR =0. 475, P 〈0. 05 ） ; G allele was positively correlated with PE （RR =5. 818, P 〈 0. 05 ）. Conclusion a-fibrinogen gene of polymorphic Thr312Ala G allele may play a positive role in promoting pulmonary embolism by the influence on plasma FIB level, and the GA, GG genotype has the higher the probability of occurrence of pulmonary embolism, This will provide important reference for the future forensic examination, clinical screening, prevention, and the treatment for PE .