SNPs discovery and linkage disequilibrium analysis of BSG in Chinese Han population
10.3969/j.issn.1672-7347.2013.12.002
- VernacularTitle:中国汉族人群BSG基因SNPs发掘与连锁不平衡分析
- Author:
Jie ZHENG
;
Mupeng LI
;
Tao SUN
;
Xiaolei HU
;
Yuanjian LI
;
Xiaoping CHEN
- Publication Type:Journal Article
- Keywords:
Basigin (BSG/CD147);
single nucleotide polymorphisms (SNPs);
haplotype tag SNPs (htSNPs);
linkage disequilibrium (LD);
Chinese Han population
- From:
Journal of Central South University(Medical Sciences)
2013;38(12):1208-1216
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify BSG single nucleotide polymorphisms (SNPs) in Chinese Han population. Methods: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 ampliifed, sequenced and followed by Hardy-Weinberg equilibrium test and linkage disequilibrium (LD) analysis.
Results:A total of 19 SNPs were identiifed, 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. Conclusion:For the ifrst time, systematic identiifcation 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 wel as pharmacogenetics study for drug response in Chinese Han population.
