内皮型一氧化氮合酶基因G894T多态性与东乡族原发性高血压的相关性

目的探讨东乡族人内皮型一氧化氮合酶（eNOS）基因G894T多态性与原发性高血压（EH）之间的相关性。方法应用聚合酶链反应—限制性内切酶片段长度多态分析法对甘肃临夏东乡族EH患者（EH组）和正常人群（NT组）的eNOS第7外显子894位处进行基因多态性分型,应用硝酸盐还原酶法方法检测血清一氧化氮代谢物（NOM）水平。结果eNOS基因G894T多态性符合Hardy-Weinberg平衡定律,EH组GT＋TT基因型和T等位基因频率均高于NT组（P〈0.05,〈0.01）;EH组中T等位基因携带者的收缩压、舒张压和平均动脉压均高于对应的GG基因型携带者（P〈0.05）。EH组GT＋TT基因型空腹血清NOM低于GG基因型（P〈0.05）。结论eNOS基因第7外显子G894T多态性的T等位基因与东乡族EH的发生相关联,T等位基因（298Glu→Asp）可能通过影响对应编码的eNOS活性而使T等位基因携带者NOM减少,进而参与EH发病。

Relationship between G894T polymorphism of endothelial nitric oxide synthase gene and essential hypertension in dongxiang minority population

Objective To investigate the relationship between G894T polymorphism of endothelial nitric oxide syn- thase （eNOS） gene and essential hypertension （EH）in Dongxiang minority population. Methods The polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method was used to detect genetypes of eNOS gene exon 7th G894T of patients with essential hypertensive （EH）, whose nitric oxide metabolites （NOM）were measured by nitrate reductase. Nonnotensives（NT） people consisted of the control group. Results eNOS gene G894T polymorphism was in line with the Hardy-Weinberg banlaneed law. The frequencies of GT ＋ TT genotypes and T allele in EH were higher than those in NT respectively（P 〈0.05 or P 〈0.01 ）. SBP ,DBP and MBP of patients with T allele of eNOS gene G894T poly- morphlsm were higher than those of patiengts with GG genotype respectively（ P 〈 0.05 ） . Tile level of NOm was lower in GT ＋ TT genotypes than that in GG genotype （ P 〈 0.05 ）. Conclusions eNOS gene exon 7 th G894T polymorphism is associ- ated with EH in Dongxiang minority population. T allele may be involved in the aetiology of EH by reducing NO release of endothelium.