内皮型一氧化氮合酶基因G894T突变与脑梗死的相关研究

目的 探讨内皮型一氧化氮合酶（endothelial nitric oxide synthase，eNOS）基因第7外显子G894T点突变与浙江汉族人群脑梗死发病之间的关系。方法 应用聚合酶链反应技术、限制性内切酶分析和病例-对照方法，检测了浙江汉族128名正常人、132例脑梗死患者的eNOS基因G894T点突变频率。比较各组间的基因型频率与等位基因频率。结果 （1）浙江汉族正常人群eNOS基因G894T突变GG、GT、TT基因型频率分别为0．9084、0．0894和0．0022；G、T等位基因频率分别为0．9531和0．0469。（2）脑梗死组及其腔隙性脑梗死亚组eNOS基因GT＋TT型频率分别为0．2009和0．2654，与GG型相比，均显著高于正常人（P〈0．05）；脑梗死组及其腔隙性脑梗死亚组T等位基因频率分别为0．1061和0．1429，均显著高于正常人（P〈0．05）。结论 eNOS基因G894T突变可能是浙江汉族人群脑梗死遗传易感性的基因标志之一。

The G894T mutation of the endothelial nitric oxide synthase gene associated with cerebral infarction in Zhejiang Han nationality

Objective To investigate the association of the endothelial nitric oxide synthase （eNOS） gene polymorphism with cerebral infarction （CI） in Zhejiang Han nationality. Methods For 132 patients with CI and 128 unrelated health individuals, the G894T mutation at exon 7 of the endothelial nitric oxide synthase gene was studied by using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis. Results （ 1 ） Among the normal subjects of Zhejiang Han nationality, the frequencies of the eNOS/GG, GT and TT genotypes were 0. 908 4,0. 089 4 and 0. 002 2, respectively. The G and T allele frequencies were 0. 953 1 和 0. 046 9, respectively. （2） The GT ＋ TT geuotype frequencies in CI and lacunar infarction （LI） subgroup were 0. 200 9 and 0. 265 4, respectively. The frequencies of eNOS/ GT ＋ TT genotypes in CI patients, as well as LI subgroup were significantly higher than that of the normal subjects （ P 〈0.05）. The frequencies of T allele in CI and LI subgroup were 0. 106 1 and 0. 142 9, respectively, which were significantly higher than that in the normal control （P 〈 0.05）. Conclusion The G894T mutation of the endothelial nitric oxide synthase gene may be a marker for genetic predisposition of CI in Zhejiang Han nationality.