| αENaC基因T663A和T3593C多态性与新疆哈萨克族血压及血电解质相关研究 |
| 投稿时间：2010-01-20 修订日期：2010-04-05 点此下载全文 |
| 引用本文：李南方,徐红,周玲,杨进,罗文利.αENaC基因T663A和T3593C多态性与新疆哈萨克族血压及血电解质相关研究[J].医学研究杂志,2010,39(8):45-49 |
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| 基金项目:新疆维吾尔自治区科技攻关和重点科技项目［200633129(3)］ |
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| 中文摘要:目的研究αENaC基因T663A与T3593C多态性及联合基因型与哈萨克族人血压、电解质的关系。方法采集252例原发性高血压（EH组）、105例血压正常（NT组）哈萨克族牧民遗传标本，检测血清K+、Na+水平，用PCR-RFLP方法，鉴定T663A与T3593C多态。分析两多态基因型及联合基因型分布及其与该民族血压、电解质的关系。结果该人群T663A多态AA、AG、GG基因型频率各为15.7%、51%、33.3%，A、G等位基因频率各为41.18%、58.82%；T3593C多态TT、TC、CC基因型频率各为88.6%、10.6%、0.8%，A、G等位基因频率各为93.84%、6.16%。两组间上述基因型、等位基因频率均无统计学差异（P＞0.05)。T3593C基因型TT对象年龄水平低于CC，T663A GG+AG+T3593C TT基因型对象年龄水平低于其他联合基因型；而T663A 基因型AA Na+水平高于GG， T663A GG+T3593C TT基因型 Na+水平低于其他联合基因型(P＜0.05)。结论该人群存在T663A与T3593C多态性。T663A AA及T663A GG+T3593C TT基因型可能与该民族血钠水平相关，年龄偏低的哈萨克族人中T3593C多态以TT型偏多，而两多态及联合基因型可能与该民族血压水平不相关。 |
| 中文关键词:上皮细胞钠通道基因 哈萨克族 单核苷酸多态性 联合基因型 |
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| The Relationship between αENaC Gene T663A and T3593C Polymorphisms and Blood Pressure and Serum Electrolyte of Kazakhs in Xinjiang |
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| Abstract:ObjectiveTo investigate the association of T663A and T3593C single nucleotide polymorphisms (SNPs) in epithelial sodium channel α subunit (αENaC) gene and their united genotypes with blood pressure and serum electrolyte levels of Kazakhs. Methods357 Kazakhs who lived in Xinjiang pasture area were recruited by cluster sampling in this study. A case-control study was conducted in this study, including 252 patients with documented essential hypertension (EH) and 105 normotensive subjects (NT). We identified T663A and T3593C genetic polymorphisms by PCR-RFLP. Serum natrium and kalium ions were measured.The distribution of genotypes, alleles and the united genotypes of these two SNPs were analyzed, and the association of them with serum natrium and kalium ions was investigated. ResultsThe frequencies of the genotypes and allele were 15.7%, 51%, 33.3% and 41.18%, 58.82% for T663A and 88.5%, 10.6%, 0.8% and 93.84%, 6.16% for T3593C. The distribution of genotypes and alleles to these two polymorphisms had no significant differences between two groups. There were no statistical differences in levels of biood pressure and kalium ions, natrium/kalium among genotypes of two polymorphisms (P＞0.05), except that the levels of Na+ of T663A AA genotype group were lower and T663A GG +T3593C TT united genotype group were higher than those of the other genotype groups and that the mean age of T3593C TT genotype and T663A GG +AG +T3593C TT united genotype groups was younger than that of the other genotypes groups. ConclusionT663A and T3593C genetic polymorphisms were found in Kazakhs. There was no association between T663A and T3593C polymorphisms and the levels of blood pressure of Kazakhs.The levels of Na+ of T663A AA genotype group were lower and T663A GG +T3593C TT united genotype group were higher than those of the other genotype groups. |
| keywords:Epithelial sodium channel gene Kazakhs Single nucleotide polymorphism The united genotype |
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