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目的:探讨研究Na-K-2Cl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210~238 bp,其频率介于0.002~0.281,以扩增长度为224 bp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(χ2=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 investigate the relationship between polymorphisms of GT repeats of NKCC2, SLC12A1 and BSC-1 genes and essential hypertension (EH) in Xinjiang Kazak people. Methods: A population-based case-control study was conducted in which 303 cases of Kazakh herds aged 30-55 years old in Xinjiang pasturing were randomly selected (152 cases of EH and 151 cases of normal controls). The white blood cells were extracted by classical saturated phenol / chloroform extraction Genomic DNA was analyzed by microsatellite genomic scanning using fluorescence-labeled polymerase chain reaction (PCR), capillary electrophoresis and Genetic Profiler automated analysis software to separate the alleles according to the size of the fragments. The NKCC2 gene GT repeat polymorphism was detected in EH patients and normal controls. RESULTS: There were 14 alleles (A1 to A14) in the NKCC2 repeat in all study populations, with amplifications ranging from 210 to 238 bp and frequencies ranging from 0.002 to 0.281 for the amplification of A9, etc., of 224 bp in length The most common loci were A5 and A8. The distribution was in accordance with the Hardy-Weinberg law of genetic balance. The GT polymorphism heterozygosity was 0.812 and the polymorphism information was 0.803. EH population NKCC2 gene GT polymorphism distribution and normal population difference was not statistically significant (χ2 = 16.885, P> 0.05). Conclusion: GT repeat polymorphism of 5 ’end of NKCC2 gene may not be related to Kazakh EH in Xinjiang.