β2-肾上腺素能受体基因单核苷酸多态性及在汉族人群中的分布

摘要

目的　研究中国人β2-肾上腺素能受体(beta2-adrenoceptor,β2-AR)基因单核苷酸多态性(single nucleotide polymorphism,SNP)，并观察这些SNPs在汉族人群中的多态性分布。方法　应用荧光标记自动测序法测定来自安徽大别山地区80名非亲缘关系人群β2-AR基因序列，确定单核苷酸多态位点及基因型。结果　在3.8 kb长度范围内共发现8个SNPs，其中5个位于编码区，平均274 bp出现一个SNP；3个位于调控区，平均721 bp出现一个SNP，与国外报道相比，-468C→G，-367T→C，-47C→T，-20T→C，+79C→G，+100G→A，+491C→T，+1098T→C未在本研究人群中检测到。各SNPs等位基因频率在人群中的分布符合Hardy-Weinberg平衡。结论　β2-AR基因SNPs呈不均匀分布，且具有很大的种族差异；其等位基因频率在人群中分布符合Hardy-Weinberg平衡。%Objective　The study was conducted to investigate single nucleotide polymorphism(SNP) in beta2-adrenoceptor(β2-AR) gene and the distribution of these identified SNPs in Chinese Han ethnic group.Methods　β2-AR gene was sequenced to detect SNPs by fluorescent labeling automatic sequencing method in 80 unrelated samples from territory of Dabie Mountain in Anhui province.Results A total of 8 SNPs were identified in length of 3.8 kb, including 5 SNPs in code region, 3 SNPs in regulatory region. Although the variations, -468C to G, -367T to C, -47C to T,-20T to C,+79C to G,+100G to A,+491C to T,+1098T to C have been identified in other ethnic groups, they have not been found in our study. The allele distribution of SNPs is in good unity with the Hardy-Weinberg equilibrium.Conclusion　The distribution of SNPs in β2-AR gene is not equable and the SNPs in different ethnic groups differ greatly. The allele distribution of SNPs conforms well to the Hardy-Weinberg equilibrium.