汉族人群NOS2 C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征研究

马厚勋; 谢正祥; 牛永红; 李章勇

doi:10.13406/j.cnki.cyxb.2005.01.010

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汉族人群NOS2 C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征研究

更新时间：2024-01-17

- 汉族人群NOS2 C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征研究
- Genetype combination distribution and allele frequency distribution of single nucleotide polymorphisms of NOS2 C-1173T and G-954C in the Han Chinese population
- 重庆医科大学学报 2005年第1期页码：34-38
- 作者机构：
  
  1. 重庆医科大学临床学院老年病科
  2. 重庆医科大学基础学院生物医学工程研究室
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.2005.01.010
  中图分类号： R346
- 纸质出版日期：2005，
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[1]马厚勋,谢正祥,牛永红,李章勇.汉族人群NOS2 C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征研究[J].重庆医科大学学报,2005(01):34-38.

MA Houxun, et al. Genetype combination distribution and allele frequency distribution of single nucleotide polymorphisms of NOS2 C-1173T and G-954C in the Han Chinese population[J]. Journal of Chongqing Medical University, 2005,(1):34-38.
[1]马厚勋,谢正祥,牛永红,李章勇.汉族人群NOS2 C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征研究[J].重庆医科大学学报,2005(01):34-38. DOI： 10.13406/j.cnki.cyxb.2005.01.010.

MA Houxun, et al. Genetype combination distribution and allele frequency distribution of single nucleotide polymorphisms of NOS2 C-1173T and G-954C in the Han Chinese population[J]. Journal of Chongqing Medical University, 2005,(1):34-38. DOI： 10.13406/j.cnki.cyxb.2005.01.010.

摘要

目的分析中国汉族人群诱导型一氧化氮合酶（NOS2）基因启动子区C-1173T、G-954C单核苷酸多态性及其等位基因频率与组合分布特征。方法获取选择自然人群个体565人（男314例

女251例）血白细胞基因组DNA

利用嵌套式等位基因特异性引物PCR技术检测NOS2C-1173T、NOS2G-954CSNP。结果NOS2C-1173TSNP基因型分布CC、CT、TT分别为66.73%、26.37%、6.90%

C、T等位基因频率分别为79.88%、20.12%。NOS2G-954CSNP基因型分布GG、GC、CC分别为61.77%、37.88%、0.35%

G、C等位基因频率分别为80.71%、19.29%。研究发现了NOS2基因在2位点的SNP前5种组合基因型分布NOS2C-1173C+G-954G233例（41.24%）

NOS2C-1173C+G-954C143例（25.31%）

NOS2C-1173T+G-954G89例（15.75%）

NOS2C-1173T+G-954C59例（10.44%）

NOS2T-1173T+G-954G27例（4.78%）。结论本研究揭示了中国汉族人群NOS2基因的2位点的SNP基因型及其组合分布特征

为研究该基因SNP与其生理功能和疾病的关系提供实验基础。

Abstract

Objective:To study genetype combination distribution and allele frequency distribution of NOS2 C-1173T and G-954C single nucleotide polymorphisms (SNP) of inducible nitric oxide synthase(NOS2) in the Chinese Han nationality population.Methods:Genomic DNA of leukocytes in venous blood was obtained from 565 Han Chinese people(female 251 and male 314).The NOS2 G-954C and NOS2 C-1173T SNPs were genotyped by nested allele-specific primer (NASP)PCR.Results:The genotype frequencies of CC

CT and TT were 66.73%

26.37% and 6.90% respectively in the NOS2 C-1173T SNP.C and T allele haplotype frequencies of NOS2 C-1173T SNP was 79.88% and 20.12% respectively.The genotype frequencies of NOS2 GG

GC and CC were 61.77%

37.88% and 0.35% respectively in the NOS2 G-954C SNP.G and C allele haplotype frequencies was 80.71% and 19.29% respectively in the NOS2 G-954C SNP.The preceding 5 combinations in the natural combination distribution of two sites of NOS2 SNP were found as follows:(1)The genotype combination of 233 subjects was NOS2 C-1173C+G-954G

its probability being 41.24%.(2)The genotype combination of 143 subjects was NOS2 C-1173C+G-954C

its probability being 25.31%.(3)The genotype combination of 89 subjects was NOS2 C-1173T+G-954G

the probability being 15.75%.(4)The genotype combination of 59 subjects was NOS2 C-1173T+G-954C

the probability being 10.44%.(5)The genotype combination of 27 subjects was NOS2 T-1173T+G-954G

the probability being 4.78%.Conclusion:This study shows the features of combination distribution and frequency distribuion of NOS2 SNPs and provides the basic laboratory data for the further study relationships among NOS2 SNPs

its physiological function and diseases.

关键词

诱导型一氧化氮合酶单核苷酸多态性（SNP）组合分布单倍体型嵌套式等位基因特异性引物PCR技术

Keywords

inducible nitric oxide synthaseSingle nucleotide polymorphisms(SNP)Combination distributionHaplotypeNested allele-specific primer(NASP)PCR technique

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