Study on the polymorphisms of TNF-α gene in the promoter region in Chinese Han population

Objective:To study the polymorphisms in the promoter region of TNF-α gene in Chinese Han population.Methods:The polymorphisms of TNF-α gene in the promoter region were detected using PCR- Sequencing Based Typing method(PCR-SBT).Results:It was successful to use PCR-SBT method to detect the promoter region polymorphisms of TNF-α gene and novel polymorphisms locus can be identified by this method. Eight polymorphisms sites were identified, including six reported polymorphism sites at -1 031,-863,-857,-308,-238,-163 locus and two novel polymorphism sites at -572 and -204 locus in TNF-α gene promoter region. Compared with the Africa Gambian population, the nucleotide diversity level (11.00±0.46)×10-4 was lower in TNF-α promoter region in Chinese Han population. The allele frequencies of rare nucleotide at -1 031,-308,-238 sites were smaller than those of the African Malawi population with an opposite trend manifested at -857 locus. The alleles -863A and -857T were more frequent when compared with the African Gambian population but the rare allele frequency was lower at -308 in this region. The TNF -1 031C, -863A,-857T alleles appeared to be linked to -572C,-308A,-238A,-204C,-163C in Chinese Han populations.Conclusion:PCR-SBT methods can be used to study the polymorphisms of TNF-α gene promoter region and there may exist some specific characters in Chinese Han population of this gene locus.