【摘要】 目的:探讨上皮细胞钠通道α亚基(SCNN1A)基因单核苷酸多态性位点rs2228576与湘西土家族、苗族和汉族人群原发性高血压(EH)的相关性。方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析土家族(120例)、苗族(117例)和汉族(125例)人群EH患者(EH组)与正常人群[正常对照组(土家族119例、苗族125例、汉族122例)]SCNN1A等位基因频率分布状况。结果:土家族、苗族和汉族均存在3种AA、AG及GG基因型;土家族、苗族和汉族正常对照组基因型频率分别为(0.109,0.538,0.353;0.152,0.472,0.376;0.164,0.541,0.295);各族EH组与正常对照组基因型频率差异均无统计学意义(χ2=5.662,P>0.843);等位基因频率差异均无统计学意义(χ2=3.538,P>0.618)。结论:3个民族均存在SCNN1A基因rs2228576多态性位点,但该多态性位点与3个民族EH无明显相关性。更多还原

【Abstract】 Objective:To investigate the association between the epithelial Na(+) channel subunit alpha(SCNN1A) gene’s single nucleotide polymorphism(SNP),rs2228576 and essential hypertension(EH) of Tujia,Miao and Han Chinese in Xiangxi area.Method:The study recruited 120 Tujia,117 Miao and 125 Han Chinese patients with EH as the EH group and 119 Tujia,125 Miao and 122 Han healthy people as the control group(NT) respectively.The rs2228576 polymorphism of SCNN1A gene was analyzed by PCR-RFLP.Results:There were three kinds of genotype: AA、AG and GG in Tujia,Miao and Han Chinese;The frequencies of genotypes of these three ethnic were 0.167,0.517,0.317;0.162,0.556,0.282;0.144,0.496,0.360 in the EH group,whlie the frequencies of them were 0.109,0.538,0.353;0.152,0.472,0.376;0.164,0.541,0.295 in the NT group.No significant difference was found in genotype of SCNN1A gene polymorphism between EH group and NT group(χ2=5.662,P>0.05).The allele frequencies of these three ethnic were 0.425,0.575;0.440,0.560;0.392,0.608 in the EH group,whlie the frequencies of them were 0.378,0.662;0.388,0.612;0.434,0.566 in the NT group.No significant difference was found in allele frequencies of SCNN1A gene polymorphism between EH group and NT group(χ2=3.538,P>0.05) in each nation.Conclusion:The Tujia,Miao and Han Chinese people have the rs2228576 polymorphism of SCNN1A gene,but there was no association between SCNN1A gene rs2228576 polymorphism and Tujia,Miao and Han Chinese patients with EH.更多还原