中文摘要：

应用聚合酶链式反应（PCR）-琼脂糖凝胶电泳技术,检测99例（男性38例,女性61例）无血缘关系的维吾尔族健康人群的内皮型—氧化氮合酶（endothelial nitric oxide synthase,e NOS）基因第4内含子数目可变性串联重复序列（4a/b VNTR）多态性,探讨e NOS基因4a/b VNTR多态性在中国维吾尔族健康人群中的分布特征。结果发现,99例健康维吾尔族人群中,aa基因型频率为2.02%（4例）,ab基因型频率为22.22%（22例）,bb基因型频率为75.76%（75例）。男女两组基因型和等位基因的分布差异不显著（P=0.194,P=0.382,P〉0.05）。aa、ab、bb、ab＋bb基因型的各种生理生化指标用单因素方差分析进行比较,不同基因型的生理生化指标之间的差异无统计学意义（P〉0.05）。维吾尔族e NOS基因4a/b VNTR多态性与国内外各民族群体进行比较,维吾尔族人群e NOS基因aa＋ab基因型频率显著低于河南汉族、中国台湾汉族、北方汉族和巴西黑人（P〈0.05,P〈0.01）,明显高于广东汉族（P=0.050）。a、b、c 3种等位基因进行比较,维吾尔族与河南汉族、中国台湾汉族、广东汉族、法国人和巴西黑人有显著性差异（P〈0.05,P〈0.01）。结果显示,e NOS基因4a/b VNTR多态性符合Hardy-Weinbery遗传平衡规律（χ2=0.017,P=0.991,P〉0.05）,群体具有代表性。由此得出,维吾尔族e NOS基因4a/b VNTR多态性与国内外的一些民族间存在显著性差异。

英文摘要：

To investigate the distribution of the intron 4 variable number of tandem repeats （4a/b VNTR） polymorphism of the endothelial nitric oxide synthase （eNOS） gene, 99 unrelated Uyghur healthy individuals （including 38 males and 61 females） are selected and tested by means of polymerase chain reaction （PCR）-agarose gel electrophoresis. All subjects are genotyped for the eNOS gene. It is shown that the frequencies of the aa, ab, bb genotypes are 2.02% （4 cases）, 22.22% （22 cases）, 75.76% （75 cases）, respectively. The genotype frequency and the allele frequency are not related to the sex （P=0.194, P=0.382, P〉0.05）. The single factor analysis of various physiological and biochemical indexes shows that the differences of all biochemical parameters are not statistically significant （P〉0.05）. In the Uyghur population, the frequency of the aa＋ab genotypes is significantly lower than those of the Henan Han population, the Taiwan Han population, the Northern Han population and the Black Brazil population （P〈0.05, P〈 0.01）, but is significantly higher than that of the Guangdong Hart population （P=O.050）. A comparison of a, b, c three allele frequencies shows that the Uyghur has a significantly different frequency from those of the Henan Han, the Taiwan Hart, the Jilin Han, the Guangdong Han, the French and the Black Brazil （P〈0.05, P〈0.01）. In short, the eNOS gene 4a/b VNTR is in line with the Hardy-Weinbery balance law 0（2=0.017, P=0.991, P〉0.05）, and the group is representative. It is concluded that there is a significant difference between the Uyghur eNOS gene 4a/b VNTR polymorphism and some ethnic groups.