SNPs discovery and linkage disequilibrium analysis of BSG in Chinese Han population / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 1208-1216, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-439612
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Journal of Central South University(Medical Sciences)
Year:
2013
Type:
Article
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