β_2-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

Single nucleotide polymorphism in β_2-adrenoceptor gene and the distribution in Chinese Han ethnic group *

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 3.8kb长度范围内共发现 8个 SNPs,其中 5个位于编码区 ,平均 2 74bp出现一个SNP;3个位于调控区 ,平均 72 1bp出现一个 SNP,与国外报道相比 ,- 46 8C→ G,- 36 7T→ C,- 47C→ T,- 2 0 T→ C,+ 79C→ G,+ 10 0 G→ A,+ 491C→ T,+ 10 98T→ 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-

Objective The study was conducted to investigate single nucleotide polymorphism(SNP) in beta2 adrenoceptor(β 2 AR) gene and the distribution of these identified SNPs in Chinese Han ethnic group.Methods β 2 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 β 2 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.