KCNE1基因多态性在新疆维吾尔族及汉族人群中分布特征  

Distribution of genetic polymorphisms of gene KCNE1 in Chinese Uygur and Han population in Xinjiang

作　　者：姚娟[1] 王清传[2] 韩瑞梅[1] 高洁[1] 

机构地区：[1]新疆维吾尔自治区人民医院心内科,乌鲁木齐830001 [2]新疆军区机关医院内科,乌鲁木齐830001

出　　处：《中华实用诊断与治疗杂志》2013年第8期747-749,752,共4页Journal of Chinese Practical Diagnosis and Therapy

基　　金：新疆维吾尔自治区自然科学基金(2012211A085)

摘　　要：目的探讨心肌钾离子通道β亚单位基因KCNE1遗传多态性在新疆维吾尔族(维族)和汉族人群中的分布特征。方法新疆地区体检健康者815例,其中维族409例,汉族406例,采用聚合酶链反应-限制性片段长度多态性方法,对KCNE1基因rs1892593(SNP1)、rs1805127(SNP2)多态性进行检测。结果 KCNE1基因SNP1位点AA型、AG型、GG型3种基因型在维族分布频率分别为25%、49%、26%,在汉族分布频率分别为36%、47%、17%;A和G等位基因分布频率在维族分别50%和50%,汉族分别为59%和41%,2个民族3种基因型和等位基因频率分布比较差异均有统计学意义(P<0.01);KCNE1基因SNP2位点AA型、AG型、GG型3种基因型在维族分布频率分别为13%、46%、41%,在汉族分布频率分别为21%、45%、34%;A和G等位基因的分布频率在维族分别36%和64%,汉族分别为44%和56%,2个民族3种基因型和等位基因频率分布比较差异均有统计学意义(P<0.01)。结论 KCNE1基因多态位点rs1892593和rs1805127在新疆维族和汉族人群中的分布具有明显差异。Objective To explore the distribution of human potassium channel β-subunit gene KCNE1 polymorphisms Chinese Uygur and Han population in Xinjiang. Methods PCR-restriction fragment length polymorphism （PCR-RFLP） analysis was used to detect the genotypes of rs1892593 （SNP1） and rs1805127 （SNP2） of KCNE1 gene in 409 Uygur and 406 Han healthy individuals. Results The frequencies of AA, AG and GG genotypes of SNP1 were 25%, 49% and 26% in Uygur group, and were 36%, 47% and 17% in Han group. The frequencies of A and G alleles were 50% and 50% in Uygur group, and were 59 % and 41 % in Han group. There were signficant differenees in distribution of genotypes and alleles between these two groups （P〈0.01）. The frequencies of AA, AG and GG genotypes of SNP2 were 13%, 46% and 41% in Uygur group, and were 21%, 45% and 34% in Hart group. The frequencies of A and G alleles were 36% and 64% in Uygur group, and were 44% and 56% in Han group. There were significant differences in distribution of genotypes and alleles between these two groups （P〈0.01）. Conclusion The distributions of rs 1892593 and rs1805127 of KCNE1 differ significantly between Uygur and Han population in Xinjiang.

关 键 词：基因多态性 钾离子通道 维吾尔族 汉族 

分 类 号：R394[医药卫生—医学遗传学]