中国汉族人群NOS3基因启动子区T-786C、A-922G与第7外显子G894T多态性等位基因及其组合分布

目的　研究中国汉族人群的内皮源性一氧化氮合酶基因启动子区 T 786C、A 92 2G与第 7外显子G894T 3个位点的单核苷酸多态性 (SNP)及其等位基因频率、单倍型组合分布特征。方法　利用嵌套式等位基因特异性引物PCR技术检测NOS3T 786C、NOS3G894TSNP以及单一等位基因特异性引物PCR技术检测NOS3A 92 2GSNP ,应用聚类分析其基因多态性特征。结果　获得 50 4例受试者的 3位点的 2 7种SNP基因型组合的自然分布特征。SNP基因型组合前 5种 :NOS3G894T A 92 2A T 786T 64例 (1 2 65 % ) ,NOS3G894G A 92 2A T 786T 54例(1 0 67% ) ,NOS3G894T A 92 2G T 786T 52例 (1 0 2 8% ) ,NOS3G894G A 92 2G T 786T 36例 (7 1 1 % ) ,NOS3G894T A 92 2G T 786C33例 (6 52 % )。男亚组的SNP的组合分布发生频度的前 3位的顺序与全样本是一致的。结论　本研究首次揭示了NOS3基因的 3位点的SNP基因型组合分布特征 ,为研究其与生理功能和疾病的关系的提供实验基础。

Genotype combination distribution and frequency distribution of three single nucleotide polymorphisms of endothelial nitric oxide synthase in the Chinese Han nationality population

Objective To study genotype combination distribution and frequency distribution of single nucleotide polymorphisms (SNP) at 3 sites of endothelial nitric oxide synthase (NOS3) gene.Methods The SNPs of NOS3 G894T and NOS3 T 786C were detected by nested allele specific primer (NASP) PCR and SNP of NOS3 922A/G was detected by single allele specific primer (SASP) PCR. The genotypes combination distribution of SNP at 3 sites of NOS3 was determined by clustering analysis technique. Results The natural combination distribution characteristics for SNP at 3 site of NOS3 in 506 subjects were gotten. The preceding 5 combination in the natural combination distribution of the SNP were : the genotype combination of 64 subjects was NOS3 G894T A 922A T 786T, its probability was 12.65%; the genotype combination of 54 subjects was NOS3 G894G A 922A T 786T, its probability was 10.67%; the genotype combination of 52 subjects was NOS3 G894T A 922G T 786T, the probability was 10.27%; the genotype combination of 36 subjects was NOS3 G894G A-922G T 786T, the probability was 7.11%; the genotype combination of 33 subjects was NOS3 G894T A-922G T 786C, the probability was 6.52%. The obvious correlations exist between full sample and male subgroup in the preceding 3 combination distribution of the SNP. Conclusions This study finds features of combination distribution and frequency distribution of SNPs of NOS3 firstly and provides the basic laboratory data to study relationships among NOS3 SNPs , its function and diseases.