原发性高血压SCNN1G基因多态性特征分析

Analysis of polymorphisms characteristics of SCNN1G gene in patients with essential hypertension

目的:本实验通过分析SCNN1G基因rs5729的基因型及等位基因分布特点,探究此基因单核苷酸多态性与原发性高血压(EH)的关系。方法:采用高分辨率熔解曲线法(high resolution melting,HRM)对rs5729位点进行基因多态性分型检测。样本来自2018-06-2019-07吉林市中心医院高血压患者115例(病例组)和非高血压人群88例(对照组)。同时,在上述样本中随机选取81例采用测序法进行验证。结果:病例组的基因型频率是TT 67.82%、AT 25.22%、AA 6.96%,T、A等位基因频率分别为80.43%和19.57%;对照组中rs5729位点TT、AT、AA基因型频率分别为89.77%、9.10%、1.13%;T、A等位基因频率分别为94.32%和5.68%;病例组和对照组的基因型与等位基因频率在2组间分布差异有统计学意义(P<0.05)。结论:利用HRM法对SCNN1Grs5729位点进行基因分型,发现其在高血压人群中分布存在差异。

Objective:In this experiment,by analyzing the genotype and allele distribution characteristics of the SCNN1Ggene rs5729,the relationship was investigated between the single nucleotide polymorphism of this gene and essential hypertension(EH).Method:Genetic polymorphism typing of rs5729locus was performed by high resolution melting curve(HRM)method.The samples of 115patients in the hypertensive patients(case group)and 88patients in the non-hypertensive patients(control group)hospitalized in Jilin Central Hospital from June 2018to July 2019.At the same time,81samples were selected for sequencing by the sequencing method.Result:The genotype frequency of the case group was TT 67.82%,AT 25.22%,AA 6.96%.T,A allele frequencies were 80.43%and 19.57%,respectively.The TT,AT,and AA genotype frequencies in the control group were 89.77%,9.10%and 1.13%,respectively.The T and A allele frequencies were 94.32%and 5.68%,respectively.There were statistical significance in the difference in genotype and allele frequency between the case group and the control group(P<0.05).Conclusion:The SCNN1Grs5729was successfully genotyped by HRM method,and its distribution in hypertensive population was statistically significant.