我国汉族正常人群内皮型一氧化氮合酶基因G894T突变的观察

G894T mutation of the endothelial nitric oxide synthase gene in Chinese Han nationality

目的 :探讨我国汉族人群内皮型一氧化氮合酶 (e NOS)基因 G894 T突变的分布特点。方法 :应用聚合酶链反应 -限制性片断长度多态性分析 ,研究了 10 8名我国汉族正常人群 e N OS基因 G894 T突变分布情况。结果 :我国汉族正常人群 e NOS基因 G894 T突变的 GG、GT、TT基因型频率分别为 0 .90 95、0 .0 883和 0 .0 0 2 1;与国外其他种族人群比较 ,我国汉族正常人群 GT+TT基因型频率低于日本人、英国白种人 (P均 <0 .0 5 )。结论 :我国汉族正常人群 e NOS基因 G894 T突变的基因型分布不同于国外其他种族 ,以 GG基因型分布频率较高 ,而 GT+TT基因型低于日本人和英国白种人。

Objective: To investigate the distribution of G894T mutation of the endothelial nitric oxide synthase (eNOS) gene in Chinese Han nationality. Methods: G894T mutation of the eNOS gene of 108 unrelated healthy individuals was studied by means of polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) analysis. Results: All subjects were genotyped for eNOS gene; the frequencies of the GG, GT and TT genotypes were 0.9095, 0.0883 and 0.0021, respectively. In the Han nationality, the frequency of the GT, TT genotypes was lower than that in Japanese and Caucasian of UK (P<0.05). Conclusion: These results suggest that there are significant differences in G894T mutation of eNOS gene between the Chinese Han nationality and other ethnic populations.