《中国康复理论与实践》

《中国康复理论与实践》 ›› 2005, Vol. 11 ›› Issue (06): 422-424.

• 专题 • 上一篇    下一篇

北方汉族人eNOS第四内含子a/b基因多态性与原发性高血压的关系

赵晓云; 国雪; 邱长春; 张冬会; 苏业璞   

  1. 1.河北省人民医院老年医学省重点实验室 河北石家庄市 050051;2.协和医科大学基础医学研究所分子生物学实验室 北京市 100005
  • 收稿日期:2004-12-10 出版日期:2005-06-25 发布日期:2005-06-25

Relationship of endothelial nitric oxide synthase gene polymorphism, the 27-bp repeat in intron 4 with essential hypertension of the northern Han nationality in China

ZHAO Xiao-yun, GUO Xue, QIUChang-chun, et al   

  1. Hebei Provincial Geriatric Key Laboratory, Shijiazhuang 050051, Hebei, China
  • Received:2004-12-10 Published:2005-06-25 Online:2005-06-25

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摘要： 目的探讨内皮型一氧化氮合酶(eNOS)第四内含子27bP插入/缺失(a/b)多态性与北方汉族人群原发性高血压(EH)的关系。方法应用多聚酶链反应(PCR)检测207例EH患者和231名健康人eNOS基因型,测定血清一氧化氮合酶(NOS)活性和一氧化氮代谢物(NOx)水平。结果健康人aa、ab和bb基因型为0.43%、13.42%和86.15%,而EH组分别为0.49%、19.32%和80.19%;EH组a等位基因的频率为10.15%高于健康对照组的7.14%(P<0.05)。EH组血浆NO含量降低(P<0.05),TNOS活性和iNOS活性下降(P<0.05),eNOS活性较健康对照组有降低趋势,但无显著性差异(P>0.05)。结论EH患者血浆NOS活性和NO水平降低,eNOS基因变异,27bP(a/b)多态性对内皮NO释放有一定影响,a等位基因可能是中国汉族人EH的遗传标志。

关键词: 高血压, 内皮型一氧化氮合酶, DNA多态现象, 基因, 一氧化氮

Abstract: ObjectiveTo investigate the relationship of the polymorphism of endothelial nitric oxide synthase (eNOS), the 27-bp variable number of tandem repeats (VNTR) in intron 4 with essential hypertension (EH) of the northern Han nationality in China.MethodsGenotypes, the level of plasma nitric oxide metabolites (NOx) and the activity of nitric oxide synthase (NOS) of 207 EH subjects and 231 healthy subjects were measured by polymerase chain-reaction (PCR).ResultsThe frequencies of ecNOS4a/a,ecNOS4b/a, and ecNOS4 b/b in the healthy group were 0.43%, 13.42% and 86.15% respectively. The frequency of the b allele was 92.86%, and the frequency of the a allele was 7.14%. While the frequencies of ecNOS4 a/a, ecNOS4 a/b,and ecNOS4 b/b in the EH group were 0.49%, 19.32% and 80.19% respectively. The frequency of the a allele in EH group (n=42, 10.15%) was significantly higher than that in the healthy group (n=33, 7.14%)(P<0.05). The plasma NOx level of the EH group was 70.04±14.68 mol/L, and significantly lower than that 84.09±27.27 mol/L in the healthy group (P<0.05). Similarly, both the plasma TNOS and iNOS activities of the EH group were 35.49±12.8 U/ml and 14.92±7.93 U/ml, and markedly lower than that 41.47±13.2 U/ml and 10.11±6.21U/ml in the healthy group (P<0.05). But the activities of eNOS in the EH group and healthy group were not significantly different (P>0.05).ConclusionThe variations of ecNOS4 gene locus may be responsible for the decrement of plasma NOx, both plasma NOx level and activity of NOS decreases in EH patients, so it may be a genetic susceptibility marker for EH of the Han nationality in China.

Key words: hypertension, endothelial nitric oxide synthase (eNOS), DNA polymorphism, gene, nitric oxide(NO)