血管紧张素转换酶基因插入/缺失多态性与颅内动脉瘤发病关系的相关性研究

A Study of the Relationship between Polymorphism of the Angiotensin Converting Enzyme Gene Insertion/Deletion and Intracranial Aneurysm

目的探讨血管紧张素转换酶基因插入/缺失多态性与颅内动脉瘤发生的关系。方法利用聚合酶链反应(PCR)、琼脂糖凝胶电泳检测PCR产物,以及部分PCR产物直接测序等方法比较87例动脉瘤组与108例对照组中血管紧张素转换酶(ACE)3种基因型的构成。结果2组插入/缺失杂合子(I/D)和缺失纯合子(D/D)基因型的构成比比较差异有统计学意义。插入/缺失杂合子(I/D)基因型中,动脉瘤组明显高于对照组(P=0.008);缺失纯合子(D/D)基因型中,动脉瘤组明显低于对照组(P=0.04),差异均有统计学意义。结论汉族人的ACE基因在第16内含子位点的插入/缺失杂合子(I/D)和缺失纯合子(D/D)基因型多态性与颅内动脉瘤的形成有密切关系。

Objective To explore the relationship between ACE gene polymorphism and intracranial aneurysms. Methods To compare the allele gene and genotype frequency of this insertion and deletion polymorphism in the 16 intron of ACE gene in 87 patients with intracranial saccular aneurysms （aneurysm group） and 108 healthy volunteers （control group） by means of polymerase chain reaction （PCR）, agarose gel electrophoresis and direct sequencing. Results The frequency of insertion and deletion genotype （I/D） in aneurysm group was significantly higher than that in control group（ P= 0. 008）; The frequency of deletion genotype （D/D） in aneurysm group was significantly lower than that in control group（P = 0.04）. Conclusion The ACE gene insertion and deletion （I/D）and deletion （D/D）polymorphism in the locus of 16 intron in Hans may be correlated with the pathogenesis of intracranial aneurysms.