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探讨α-adducin基因的Gly460Trp多态性与新疆哈萨克族人原发性高血压的关系。以人群为基础进行病例对照研究,应用突变分离多聚酶链反应(MS-PCR)分析技术,检测235例原发性高血压患者与132例正常对照者的α-adducin基因Gly460Trp多态性。结果,新疆哈萨克族人α-adducin基因型频率在原发性高血压组中分别为Gly/Gly:23.83％,Gly/Trp:50.64％,Trp/Trp:25.53％;在正常组中其相应频率分别为26.52％,46.96％,26.52％,基因型频率的分布在原发性高血压组与正常组中无显著差别(P>0.05)。460Gly、460Trp等位基因频率在原发性高血压组中分别为49.15％、50.85％;在正常组中分别为50％、50％,等位基因频率在两组之间也无显著性差异(P>0.05)。在高血压组和对照组内,各基因型间体重指数、收缩压(SBP)以及舒张压(DBP)均未见显著性差异(P>0.05)。说明新疆哈萨克族人α-adducin基因第10外显子第614位存在G/T分子变异,但与其原发性高血压无关联。
To investigate the relationship between α-adducin gene Gly460Trp polymorphism and essential hypertension in Kazaks of Xinjiang. A population-based case-control study was performed to detect the Gly460Trp polymorphism of α-adducin gene in 235 patients with essential hypertension and 132 healthy controls by mutation-free polymerase chain reaction (MS-PCR). Results The frequency of α-adducin genotypes in Kazakh was 23.83%, Gly / Trp: 50.64% and Trp / Trp: 25.53% respectively in the essential hypertension group. In the normal group, the frequencies of α-adducin genotypes were 26.52%, 46.96% and 26.52% respectively. There was no significant difference in the distribution of genotype frequency between the primary hypertension group and the normal group (P> 0.05). The frequencies of 460Gly and 460Trp alleles were 49.15% and 50.85% in the patients with primary hypertension respectively. In the normal group, 50% and 50% of the alleles had no significant difference in allele frequencies between the two groups P> 0.05). There was no significant difference in body mass index, systolic blood pressure (SBP) and diastolic blood pressure (DBP) between the genotypes in the hypertension group and the control group (P> 0.05). This indicated that there was a G / T mutation in the 614th exon of α-adducin gene in Kazak of Xinjiang, but not related to its essential hypertension.