新疆维、汉两民族健康人群KCNE1基因多态性分布

目的 研究心肌钾离子通道β亚单位基因(potassium voltage-gated channel，Isk-related family，member 1，KCNE1)标签SNP rs2834497和rs4817656在新疆维吾尔族和汉族健康人群中的分布情况。方法选择新疆地区409名维吾尔族和406名汉族，均为健康人群，采用等位基因特异性PCR(allele-spocific polymerase chain reaction,AS-PCR)方法进行基因分型。结果 ①rs2834497三种基因型AA型、AG型和GG型在维吾尔族人群中的分布频率分别为：65.5％、29.8％和4.6％；在汉族人群中的分布频率分别为：55.4％、36.9％和7.6％，两组基因型分布比较有统计学意义(x2= 9.92,P＜0.01)；②rs4817656三种基因型CC型、CT型和TT型在维吾尔族人群中的分布频率分别为：26.4％、53.5％和20.0％；在汉族人群中的分布频率分别为：22.2％、49.0％和28.8％。两组基因型分布比较有统计学意义(x2=8.74,P＜0.05)；③rs4817656和rs2834497共构建4个单体型，其中CG和TA单体型在维族中的分布明显高于汉族(x2= 37.83，P＜0.01；x2=4.13,P＜0.05)，TG单体型在汉族中的分布明显高于维族(x2= 30.77,P＜0.01)。结论 KCNE1基因标签SNP rs2834497和rs4817656在新疆汉族和维吾尔族健康人群中的分布差异具有统计学意义。

The distribution of genetic polymorphisms of gene KCNE1 in healthy Chinese Han and Uighur population in Xinjiang

ObjectiveTo explore the distribution of genetic polymorphisms (rs2834497 and rs4817656) of beta-subunit of the potassium channel gene (KCNE1) in healthy Chinese Hart and Uighur population of Xinjiang. Methods 409 Uighur and 406 Han healthy persons were studied for the genotypes of the KCNE 1 by allele-specific PCR (AS-PCR). Results The frequencies of AA, AG and GG of rs2834497 were 65.5％ ,29.8％ ,and 4.6％ in Uighur group while ones were 55.4％ ,36.9 ％ and 7.6 ％ in Han group. There was significant difference in distribution of genotypes between these two groups (x2 = 9.92, P ＜ 0.01 ). The frequencies of CC, CT and TT of rs4817656 were 26.4 ％ ,53.5％ and 20.0％ in Uighur group while ones were 22.2％ ,49.0％ and 28.8％ in Han group.There was also significant difference in distribution of genotypes between these two groups (x2 = 8.74,P＜0.05). The AT and GC haplotypes were more frequency in the Uighur(x2 =37.83 ,P＜0.01 ;x2= 4. 13, P ＜ 0.05 ) , but the GT haplotype was more common in the Han population (x2 = 30.77, P ＜0.01 ). Conclusion The mutational frequencies of the tagging SNP (rs2834497 和 rs4817656) in the KCNE1 gene of Uighur population were different from those of Hans.