Abstract
To identify BSG single nucleotide polymorphisms (SNPs) in Chinese Han population. Peripheral blood samples were collected from 48 unrelated healthy Chinese Han subjects. Sequences at the BSG locus, including the promoter region, all exons and exon-intron boundaries were amplified, sequenced and followed by Hardy-Weinberg equilibrium test and linkage disequilibrium (LD) analysis. A total of 19 SNPs were identified, 2 of which two were novel. Genotype distributions of all SNPs were consistent with Hardy-Weinberg equilibrium. Four haplotype blocks were constructed throughout the gene locus, and 9 haplotype tag SNPs (htSNPs) were inferred. Distribution of SNPs was in accordance with the neutrality theory in Chinese Han population. For the first time, systematic identification of BSG SNPs in the Chinese Han population has been done, and 9 htSNPs are identified. Our study has provided basis for further genetic association studies for related diseases as well as pharmacogenetics study for drug response in Chinese Han population.
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