抗凝血酶基因Ala384Ser多态性与肺血栓栓塞症相关性研究

Ala384Ser polymorphism of antithrombin gene and pulmonary thromboembolism

目的探讨抗凝血酶基因Ala384Ser多态性与肺血栓栓塞症（pulmonary thromboembolism，PTE）的相关性。方法采用病例对照研究的方法，运用聚合酶链反应扩增，产物纯化，PvuⅡ限制性内切酶片段长度多态性聚合酶链反应及DNA测序技术对65例PTE患者及65名健康对照者进行抗凝血酶基因Ala384Ser分析。结果PTE组仅3．3％患者有PTE家族史，这与西方人群报道结果存在显著差别；心血管疾病家族史、口服避孕药、吸烟、饮酒史、外伤及手术史PTE组与对照组比较差异无统计学意义。PTE组、对照组等位基因频率为1、0，符合Hardy—Weinberg平衡定律，G／G、G／T、T／T基因型频率和G、T等位基因频率在PTE组与对照组之间差异无统计学意义。结论抗凝血酶基因Ala384Ser多态性可能不是中国人群PTE的一个危险因素，与西方调查者实验结果的差别说明基因多态性存在种族差异，且在不同种族中PTE的致病机制可能不同。

Objective To investigate whether there is an association between the Ala384Ser polymorphsim of antithrombin gene and pulmonary thromboembolism （PTE）. Methods Antithrombin Ala384Ser was detected by case-control study in 65 patients with PTE and 65 nonthrombosis normal individuals as controls. The antithrombin gene was amplified by polymerase chain reaction （PCR）. The Ala384Ser polymorphism was genotyped by PCR RFLP using Pvu Ⅱ ,and the confirmation of genotypes was performed by sequencing. Results There was significant difference in family history of PTE between China and West countries. There were no significant differences in the family of cardiovascular diseases, personal history of oral contraceptive, trauma,operation, cigarette smoking and alcohol drinking between patients and controls. Frequencies of allele G and T in the controls were 1,0 respectively. The distribution of genotypes met the Hardy-Weinberg equilibrium. There were no significant differences in the frequencies of genotype G/G,G/T and T/T between patients and controls. Conclusions Ala384Ser polymorphism of antithrombin gene is not a risk factor for PTE in Chinese,as the obvious discrepancy in the results with those reported by western country investigators may reflect the plausible pathogenic divergence in PTE among different races.