Single nucleotide polymorphisms of tumor necrosis factor alpha gene promoter in Henan Han population

Objective To study the single nucleotide polymorphisms(SNPs) including sites at -238G/A,-308G/A, -850C/T,-863C/A located in tumor necrosis factor alpha(TNF-α) gene promoter among 217 unrelated individuals in Henan Han population.Methods The genotype of SNPs were detected by restriction fragment length polymorphism(RFLP) and the polyacrylamide gel electrophoforsis whose mass fraction was 6%followed by silver-staining.Results In Henan Han population,the distribution of allele and genotype frequency of 4 SNPs sites was in Hardy-Weinberg Equilibrium.All the allelic frequencies were over 5%;The minor allele frequency of the 4 SNPs loci varied from 5.8%to 14.1%.Twenty-one combined genotypes were observed,and the heterozygosity was 0.461.Eleven haplotypes were deduced by SHEsis software.The haplotype diversity was 0.608.Conclusion Four SNPs loci on the TNF-αgene and it's haplotypes have higher polymorphism and can be used for population genetic studies.