内皮型一氧化氮合酶基因多态性与原发性高血压的相关关系

Association of Polymorphism of Endothelial Nitric Oxide Synthase Gene with Essential Hypertension

目的 探讨内皮型一氧化氮合酶 (eNOS)基因 2 7bp数目可变的串联重复序列 (VNTR)多态性与中国汉族人原发性高血压 (EH)的相关性。方法 (1)聚合酶链反应 (PCR)及琼脂糖凝胶电泳检测 3 3 4例EH患者的基因型 ,同时进行基因测序。 (2 )硝酸还原酶法测定空腹血清一氧化氮代谢物 (NOx)水平 ,用放射免疫法测定内皮素 (ET)的水平。结果 (1)EH组aa +ab基因型和a等位基因频率显著高于对照组 ;(2 )EH组内ab +ab基因型空腹血清NOx、NOx/ET比明显低于bb基因型。结论 eNOS基因 2 7bpVNTR的a等位基因与中国汉族人EH的发生相关 ,a等位基因携带者可能通过减少内皮NO的释放。

Objective To investigate the association of the polymorphis m of endothelial nitric oxide synthase (eNOS) gene 27 bp varible number of tandem repeats(VNTR) with essential hypertension (EH) in Chinese population. Methods Genotypes of 334 patients were determined by polymerase chain reaction(PCR) and agarose gel electrophoresis and gene sequencing. Fasting serum nitric oxide metabolite(NOx) and Endothelin (ET) were measured by nitrate reductase and radioimmunoassay respectively. Results (1)The frequencies of a allele and ab+aa genotype in EH were significantly higher than in control group; (2)The level of NOx and the rate of NOx/ET in ab+aa genotype were lower than bb genotype of EH. Conclusions The pl olymorphism of eNOS gene 27 bp VNTR is associated with EH in Chinese population.a allele may be involved in the etiology of EH by reducing NO release of endothelium and damaging the endothelial function.