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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- Weinberg平衡
Objective To study the single nucleotide polymorphism (SNP) of β2 - adrenoceptor (β2 - AR) gene in Chinese population and to observe the polymorphism distribution of these SNPs in Han population. Methods The sequence of β2 - AR gene in 80 non - relatives from Dabie Mountain in Anhui Province was determined by fluorescent - labeled automated sequencing and the single nucleotide polymorphisms (SNPs) and genotypes were determined. Results A total of 8 SNPs were found in the length of 3.8kb, of which 5 were located in the coding region, an average of 2 74bp SNP; 3 in the regulatory region, an average of 72bp SNP, compared with foreign reports - 46 8C → G, - 36 7T → C, - 47C → T, - 2 0 T → C, + 79C → G, + 10 0 G → A, + 491C → T, + 10 98T → C were not detected in this study population . The distribution of SNPs alleles in the population is in line with the Hardy-Weinberg equilibrium. Conclusion The SNPs of β2 - AR gene are inhomogeneous distribution and have great racial differences. The distribution of allele frequencies in population is in accordance with Hardy - Weinberg equilibrium