河南汉族正常人群内皮型一氧化氮合酶基因4a/bVNTR多态性分布

Distribution of endothelial nitric oxide synthase gene intron 4a/b VNTR polymorphism in Han population of Henan province

目的研究河南汉族正常人群内皮型一氧化氮合酶(eNOS)基因第4内含子数目可变性串联重复序列(4a/bVNTR)多态性分布特点。方法应用PCR方法检测并分析496名河南省汉族正常人eNOS基因4a/bVNTR多态性的分布情况。结果河南汉族正常人群eNOS基因4a/bVNTR的a/a、a/b、b/b、b/c基因型频率分别为0.60%、14.32%、84.68%和0.40%;河南汉族正常人群a/a+a/b基因型频率低于韩国人(χ2=5.185,P<0.05)和意大利白种人(χ2=20.573,P<0.01)。结论河南汉族正常人群eNOS基因4a/bVNTR基因型分布不同于韩国人和意大利人。

Aim ： To investigate the distribution of intron 4a/b VNTR polymorphlsm of the endothelial nitric oxide synthase （eNOS） gene in Henan Han population. Methods：4a/b VNTR polymorphism of the eNOS gene of 496 unrelated healthy individuals was analyzed using PCR. Results： The frequencies of a/a, a/b, b/b, b/c genotypes were 0.60% , 14.32% ,84.68% and 0.40% , respectively. In Henan Han population, the frequency of the a/a ＋ a/b genotypes was significantly lower than those of Korean （χ^2 = 5. 185, P 〈 0.05 ） and Italian（χ^2 = 20. 573, P 〈 0.01 ） populations. Conclusion ： There are significant differences in 4a/b VNTR polymorphism of eNOS gene distribution between the Chinese Han population and other ethnic populations.