Mutational analysis of KCNJ11 in Chinese elderly essential hypertensive patients
Mutational analysis of KCNJ11 in Chinese elderly essential hypertensive patients
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中国老年原发性高血压患者KCNJ11基因突变分析
DOI：
10.3724/sp.j.1263.2011.12122
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发表时间：
2012-01-01
影响因子：
2.5
通讯作者：
Zhu, Qing-Lei
中科院分区：
文献类型：
--
作者：
Li, Jia-Yue;Li, Zong-Bin;Zhu, Qing-Lei
目的比较KCNJ11基因多态性在中国老年高血压人群与非高血压人群中的分布。方法采用直接测序法检测KCNJ11基因突变。本研究的数据来自250名高血压受试者（60至83岁）以及250名血压正常受试者（60至86岁）。结果在KCNJ11基因中发现了9个不同的突变，其中6个为新突变（I131M、L147I、L147V、L147L、Q235H、G245C）。在血压正常的受试者中没有发现新的突变，所有的残基在其他物种中是保守的。中国人群中的这些序列变异表明了人类文库的多样性和高血压的复杂性。结论本研究的一致性结果为老年高血压的诊断和治疗提供了新的策略。
Objective To compare the distribution of KCNJ11 polymorphisms between elderly Chinese population with and without hypertension. Methods We examined the mutation of KCNJ11 gene by directly sequencing. Data for the present study were obtained from 250 hypertensive subjects (60 to 83 years old) as well as 250 normotensive subjects (60 to 86 years old). Results We found nine different mutations in KCNJ11, including six novel mutations (I131M, L147I, L147V, L147L, Q235H, G245C). None of the novel mutations were found in the normotensive subjects, and all the residues were conserved in other species. These sequence variants in Chinese population indicate the diversity of the human library and the complexity of hypertension. Conclusions The consistent finding of our present study provided a basis for the development of new strategies to diagnosis and treat hypertension in the elderly.