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目的：探讨内皮型一氧化氮合酶（eNOS）基因894G/T 多态性与原发性高血压（EH）合并脑梗塞(CI)的关系。方法：应用聚合酶链反应限制性片段长度多态性方法检测湖北地区汉族74 例健康者（NT 组）、103 例原发性高血压无合并症者（EH 组）及70 例原发性高血压合并脑梗塞者（EH-CI 组）的eNOS 基因型；生化技术测定其血脂、一氧化氮代谢物（NOM）水平。结果：EH 组及 EH-CI 组患者的T 等位基因频率分别为0.224 和0.321，均显著高于NT 组（P<0.05）；且两者之间的T 等位基因频率差异显著性（P<0.05）；EH-CI 组中，GT＋TT 基因型者的舒张压显著高于GG 基因型者（P<0.05），而NOM 显著低于GG 基因型者。结论： eNOS 基因894 位G/T 多态性可能与汉族高血压病患者伴脑梗塞有关，该位点多态性可能使T 等位基因携带者NOM 减少，进而参与EH-CI 发病。

英文摘要:

Objective: To investigate the relationship between 894 G/T polymorphism of endothelial nitric oxide synthase (eNOS) gene and essential hypertension complicated with cerebral infarction in Chinese population. Methods: With polymerasechain reaction restriction fragment lenth polymorphism(PCR-RFLP), eNOS genotyping was performed in 74 unrelated healthy controls（NT group）and 103 hypertensive patients without cardio-cerebrovascular diseases (EH group) and 70 hypertensive patients with cerebral infarction（EH-CI group）,whose plasma lipid levels and nitric oxide metabolites (NOM) were measured. Results: The frequencies of T allele of eNOS gene in two groups of hypertention were significantly higher than that in NT group respectively (P<0.05) ,and the frequencies of T allele of eNOS gene in EH-CI group were higher(P<0.05). Diastolic blood pressure (DBP) for eNOS GT+TT genotype was significantly higher in EH-CI group than that for GG genotype in EH group. (P<0.05) . The level of NOM was lower in GT+TT genotypes than that in GG genotype(P<0.05)．Conclusion: eNOS gene G894T polymorphism could contribute to the development of essential hypertension, and to be the incidence of CI in the hypertensives. T allele might be involved in the aetiology of EH-CI by reducing NO release of endothelium.

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