FⅫ基因多态性对肺血栓栓塞的影响

Effects of factor Ⅻ gene polymorphism on the pulmonary thrombus embolism

目的探讨凝血因子Ⅻ基因(FⅫ)多态性与肺血栓栓塞(PTE)形成的相关性及其影响。方法采用直接测序法检测56例PTE患者和40例对照组的FⅫ基因启动区第46位碱基多态性,并采用一期凝固法、发色底物法及免疫比浊法等测定血浆凝血因子Ⅻ活性(FⅫ∶C)、抗凝血酶活性(AT∶A)、纤溶酶原活性(PLG∶A)及血浆D-二聚体(D-D)含量等各项指标。结果 FⅫ基因多态性46TT型在PTE患者所占比例较对照组明显增高,其多态性在分布上差异有统计学意义(P<0.05)。46TT型血浆FⅫ∶C、AT∶A均明显低于其他型及对照组(P<0.05),但在46CT型及46CC型与对照组之间比较,差异无统计学意义(P>0.05)。与对照组比较,46TT型的D-D含量明显升高(P<0.05)。PLG∶A在各型患者及对照人群之间差异均无统计学意义(P>0.05)。结论肺血栓栓塞患者的FⅫ基因46TT型增多并导致FⅫ活性明显下降,该多态性是引起肺血栓栓塞的潜在因素。

Objective To investigate the effects and correlation of factor Ⅻ gene （FⅫ） polymorphism on the patients with pul- monary thrombus embolism （PTE）. Methods The 46 polymorphism at promoter regions in factor XU gene were analyzed by di- rect sequencing in 56 patients with pulmonary thrombus embolism before therapyand 40 normal controls, then the activity of plasma factor Ⅻ （ FⅫ ： C）, plasma antithrombin （ AT ： A）, plasminogen （ PLG ： A ） and D - Dimer （ D - D ） were respectively measured by way of one - stage recalcification clotting time assay, chromogenic substrate method and immunoturbidimetry assay. Results The rate of 46TT polymorphism at factor Ⅻ gene in patients with the pulmonary thrombus embolism were higher than control group, and the differences on the distribution of 46 polymorphism in factor Ⅻ gene were statistically signifcant （ P 〈 0.05 ）. The FⅫ ： C and AT ： A at the 46TF group were obviously lower than the 46CT, 46CC and control group（ P 〈 0.05 ）, respectively, But there were no significant difference in these parameters among the 46CT, 46CC and control group （ P 〉 0.05 ）, respectively）. Compared the control group, D -D were higher in 46TF group（P 〈0.05）, and there were also no differences in PLG ： A with every group（P 〉 0.05）, respectively. Conclusion The 46TT polymorphism were obviously increased in patients with the pulmonary thrombus embolism and it can result in that evidently decreased the activity of FⅫ. The polymorphism was potential factor for the pulmonary thrombus embolism.