TAFI基因编码区的单核苷酸多态性与脑梗死的相关性探讨

The Association between Single Nucleotide Polymorphisms in the Coding Region of TAFI Gene and Cerebral Infarction

目的 凝血酶激活的纤溶抑制物 (Thrombinactivatablefibrinolysisinhibitor ,TAFI)具有抑制纤维蛋白溶解的功能 ,它在止血中起重要的作用。TAFI的血浆浓度是受TAFI基因变异调节的 ,因此TAFI基因可能是脑梗死的候选基因之一。探讨TAFI基因单核苷酸的多态性与脑梗死的关系。方法 收集了 189例尸体检查的样本 ,其中包括 95例脑梗死和 94例的对照组。TAFI基因G5 0 5A和C10 4 0T的基因型是用PCR -RFLP(Restrictionfragmentlengthpolymorphism)法来分析。 结果 G5 0 5AandC10 4 0T的基因型频率分布是A5 0 5A 12 (6 % ) ,G5 0 5A 75 (4 0 % ) ,G5 0 5G 10 2 (5 4 % ) ;C10 4 0C 139(74 % ) ,C10 4 0T 4 5 (2 3% ) ,T10 4 0T 5 (3% )。在脑梗死组和对照组之间 ,这些基因型的分布没有显著性差别 (P >0 .0 5 )。结论 TAFI基因单核苷酸的多态性 (G5 0 5A和C10 4 0T)与脑梗死没有显著性相关。

Objective Thrombin activatable fibrinolysis inhibitor (TAFI) plays an important role in hemostasis, functioning as a potent fibrinolysis inhibitor. TAFI gene variations contribute to plasma TAFI levels, so it is maybe a candidate gene of cerebral infarction. Our aim is to find the association between the polymorphisms of TAFI gene and cerebral infarction.Methods Clinicopathological data from 189 autopsies were analyzed, and 95 cerebral infarction patients and 94 controls were included. PCR-RFLP (Restriction fragment length polymorphism) method was used to genotype the polymorphism of G505A and C1040T of TAFI gene.Results The genotyping frequencies of G505A and C1040T were A505A 12(6%), G505A 75(40%), G505G 102(54%); C1040C 139(74%), C1040T 45(23%), T1040T 5(3%), respectively. Chi-square analyses showed that the difference of these genotyping frequencies between the cases and controls was not significant(P>0.05).Conclusions Our results indicated that the polymorphisms(G505A and C1040T)of TAFI gene were not associated with cerebral infarction.