Single nucleotide polymorphism in β₂-adrenoceptor gene and the distribution in Chinese Han ethnic group

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.