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为了分析汉族人群一氧化氮合酶基因NOS3 A-922G、NOS3 T-786C与NOS3 G894T单核苷酸多态性(singlenuc leotide polymorph ism,SNP)的等位基因及其组合分布与高血压病的相关性,选取无亲缘关系的高血压病人192例(男97例,女95例)以及无亲缘关系的健康个体122例(男76例,女46例)为对照组,提取静脉血白细胞基因组DNA,采用等位基因特异性引物PCR技术检测NOS3 A-922G、NOS3 T-786C与NOS3 G894T 3个位点的基因型。其结果显示:高血压病组与对照组NOS3 G894T、NOS3A-922G及NOS3 T-786C各等位基因型及其基因单倍型频率比较无显著性差异(P>0.05)。男、女性别分层研究:无论男亚组还是女亚组均未发现NOS3 A-922G、NOS3 T-786C与NOS3 G894T各个位点SNP与高血压病有相关性。等位基因组合分布研究发现NOS3 G894G+A-922G+T-786T组合基因型总体频率分布在高血压病组与正常对照组之间有显著性差异(P<0.05,χ2=4.5944)。男、女性别分层研究:男亚组上述3个位点SNP的各个组合基因型分布频率在高血压病组与正常对照组之间无显著性差异(P>0.05);女亚组中携带NOS3 G894G+A-922G+T-786C的组合基因型分布频率在高血压病组与正常对照组之间有显著性差异(P<0.01,χ2=8.502)。研究发现,在中国汉族人群中NOS3A-922 G、NOS3 T-786C与NOS3 G894T SNP与高血压病无明确的相关性,且无性别差异。组合分布研究发现,NOS3 G894G+A-922G+T-786C的组合基因型分布频率在高血压病女性亚组较健康女性亚组明显减低,提示携带该组合基因型女性人群可能不易患高血压病。
In order to analyze the allele and its combination distribution of nitric oxide synthase gene NOS3 A-922G, NOS3 T-786C and NOS3 G894T single nucleotide polymorphism (SNP) in Han population, 192 unrelated hypertensive patients (97 males and 95 females) and 122 unrelated healthy individuals (76 males and 46 females) were selected as the control group, genomic DNA was extracted from venous blood leukocytes The genotypes of three sites of NOS3 A-922G, NOS3 T-786C and NOS3 G894T were detected by allele-specific primer PCR. The results showed that there was no significant difference in the haplotype frequencies of NOS3 G894T, NOS3A-922G and NOS3 T-786C between hypertensive group and control group (P> 0.05). Male and female stratification studies: No correlation was found between SNPs in NOS3 A-922G, NOS3 T-786C and NOS3 G894T SNPs and hypertension in either male subgroup or female subgroup. The allele distribution distribution showed that the overall frequency distribution of NOS3 G894G + A-922G + T-786T genotype was significantly different between hypertension group and normal control group (P <0.05, χ2 = 4.5944). Male and female stratification studies: There was no significant difference in genotype frequencies of SNPs among the three subgroups in male subgroups between hypertension group and normal control group (P> 0.05) The frequency of genotype distribution of NOS3 G894G + A-922G + T-786C was significantly different between hypertension group and normal control group (P <0.01, χ2 = 8.502). The study found no correlation between NOS3A-922G, NOS3 T-786C and NOS3 G894T SNP and hypertension in Chinese Han population, and no gender differences. The combinatorial distribution study found that the genotype frequency of NOS3 G894G + A-922G + T-786C was significantly lower in hypertensive women than in healthy women, suggesting that female genotypes carrying this genotype might not be susceptible to hypertension .