Study on the endothelial nitric oxide synthase gene polymorphism in Chinese han nationality

GUO Fengjin; et al

doi:10.13406/j.cnki.cyxb.2004.03.008

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Study on the endothelial nitric oxide synthase gene polymorphism in Chinese han nationality

更新时间：2024-01-17

- Study on the endothelial nitric oxide synthase gene polymorphism in Chinese han nationality
- Journal of Chongqing Medical University Issue 3, Pages: 279-283(2004)
- 作者机构：
  
  1. 重庆医科大学基础医学院生物教研室
  2. 重庆医科大学基础医学院生物教研室,重庆,400016
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.2004.03.008
  CLC： Q987
- Published：2004，
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[1]郭风劲,彭惠民,张政,晏宁.中国汉族人内皮细胞型一氧化氮合酶基因多态性研究[J].重庆医科大学学报,2004(03):279-283.

GUO Fengjin, et al. Study on the endothelial nitric oxide synthase gene polymorphism in Chinese han nationality. [J]. Journal of Chongqing Medical University (3):279-283(2004)
[1]郭风劲,彭惠民,张政,晏宁.中国汉族人内皮细胞型一氧化氮合酶基因多态性研究[J].重庆医科大学学报,2004(03):279-283. DOI： 10.13406/j.cnki.cyxb.2004.03.008.

GUO Fengjin, et al. Study on the endothelial nitric oxide synthase gene polymorphism in Chinese han nationality. [J]. Journal of Chongqing Medical University (3):279-283(2004) DOI： 10.13406/j.cnki.cyxb.2004.03.008.

摘要

目的 :探讨内皮细胞型一氧化氮合酶（eNOS）基因（CA）n二核苷酸重复序列基因多态性在中国汉族人群中的分布。方法 :应用聚合酶链反应结合聚丙烯酰胺凝胶电泳和硝酸银染色

对 2 91名中国汉族人的eNOS基因（CA）n多态性进行研究。结果 :eNOS基因（CA）n存在 2 3种等位基因和 93种基因型

基因型分布符合Hardy -Weinberg平衡（P >0 .0 5 ）。PCR扩增片段长度范围为 14 4bp～ 188bp

所含CA重复次数分别为 19～ 4 1

分布频率介于 0 .34%～ 14 .1%。该位点杂合度为 0 .85

多态信息量（PIC）为 0 .83。中国人群与高加索人群差异显著的 11个等位基因分别为（CA） 2 2 、（CA） 2 3 、（CA） 2 6、（CA） 2 7、（CA） 2 8、（CA） 3 0 、（CA） 3 1、（CA） 3 2 、（CA） 3 3 、（CA） 3 4 、（CA） 3 5

χ2 检验P均 <0 .0 5。结论 :该基因位点是 1个含有高度遗传信息的DNA标志

其等位基因频率分布存在种族差异

Abstract

Objective:To explore the distribution of the (CA) n dinucleotide repeats polymorphism of the endothelial nitric oxide synthase (eNOS) gene in Chinese han nationality.Methods:(CA) n repeats polymorphism of the endothelial nitric oxide synthase (eNOS) gene from 291 Chinese healthy subjects were analyzed by polymerase chain reaction(PCR)-denature polyacrylamide gel electrophoresis (PAGE)-silver stain.Results:Ninety-three genotypes and twenty-three different alleles were identified in 291 Chinese healthy subjects.The distribution of genotypes was in accordance with the Hardy-Weinberg equilibrium( P >0.05).The size of PCR fragments ranged from 144 to 188bp containing 19～41 CA repeats and the frequency of (CA)n ranged from 0.34%～14.1%.The heterozygosity(H) and polymorphism information content(PIC) were 0.85 and 0.83 respectively.Significant differences were found in frequencies of eleven alleles including 22-repeats

23-repeats

26-repeats

27-repeats

28-repeats

30-repeats

31-repeats

32-repeats

33-repeats

34-repeats and 35-repeats between Chinese and Caucasians.Conclusion:This site is referred to as a genetic marker with high polymorphism information content.And the distribution of this genetic marker is different in different ethnic groups.

关键词

内皮细胞型一氧化氮合酶基因多态性等位基因基因型

Keywords

Endothelial nitric oxide synthasegene polymorphismAllelegenotype

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