Na-K-2Cl转运蛋白基因5′端GT重复序列多态性与新疆哈萨克民族原发性高血压的相关性

The relationship between GT repeat sequence polymorphism of Na-K-2Cl cotransporter(NKCC2,SLC12A1) gene and essential hypertension in Kazakans of Xinjiang pravince

目的：探讨研究Na-K-2C1转运蛋白（NKCC2，SLC12A1，BSC-1）基因GT重复序列多态性与新疆哈萨克族人原发性高血压（EH）的关系。方法：以人群为基础进行病例-对照研究，随机选取新疆牧区30～55岁的哈萨克族牧民303例（EH患者152例，正常对照151例），采用经典的饱和酚／氯仿抽提法提取白细胞基因组DNA，运用荧光标记多聚酶链式反应（PCR）技术、毛细管电泳和Genetic Profiler自动分析软件进行微卫星基因组扫描分析技术，根据片断大小分离等位基因。检测EH患者与正常对照者的NKCC2基因GT重复序列多态性。结果：在所有研究人群中NKCC2基因重复序列存在14种等位基因（A1～A14），扩增长度为210～238bp，其频率介于0．002～0．281，以扩增长度为224bp的A9等位基因最为常见，其次为A5和A8，分布符合Hardy-Weinberg遗传平衡定律，GT重复多态杂合率为0．812，多态信息量为0．803。EH人群NKCC2基因GT重复多态分布与正常人群差异无统计学意义（χ^2=16．885，P〉0．05）。结论：NKCC2基因5’端GT重复多态性标记与新疆哈萨克民族EH可能不相关。

Objective： To evaluate the relationship between GT repeat sequence of Na-K-2C1-cotransporter （NKCC2） gene and essential hypertension（EH） in Kazakans. Method： A population-based case-control study was carried out. The study population was selected randomly from the pasturing area aged 30 to 55 years in Xinjiang province. The study cohort consisted of 303 subjects （152 hypertensive patients, 151 normotensive controls）. Genomic DNA was conventionally extracted from the peripheral blood leukocytes by proteinase K digestion of nuclei. The GT-repeat polymorphism of NKCC2 gene was identified by polymerase chain reaction （PCR） with fluorescence labeled primers, capillary electrophoretic and automatic analysis Genetic Profiler for microsatellite genescan. Allele was separated by fragment length. Result：There were 14 alleles ranging from 210bp to 238bp in all subjects. The allele frequencies were from 0. 002 to 0. 281, and allele A9 was the most frequent in the whole Kazakans population, the next, A5 and A8. The heterozygosity of GT repeat locus was 0. 812, the polymorphic information content （PIC） 0. 803. All of Allele frequencies of the two groups microsatellite DNA in Kazakans population were in Hardy-Weinberg equilibrium. There was no significant difference in distribution of GT repeat polymorphic genotype between EH and control groups （χ^2 = 16. 885, P = 0. 205）. Conclusion： The results suggest that GT repeat polymorphism of NKCC2 gene may not be associated with EH in Kazakans.