中国汉族人群TNF-α基因启动子区的多态性研究

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

目的:研究中国汉族人群TNF-α基因启动子区的基因多态性。方法:采用PCR-SBT(PCR Sequencing Based Typing)方法进行TNF-α基因启动子区的多态检测。结果:采用PCR-SBT方法可以成功获得TNF-α基因启动子区的多态性结果并能够发现新的多态性位点;本次研究发现中国汉族人群TNF-α基因启动子区的多态性位点有:-1031、-863、-857、-572、-308、-238、-204和-163,其中-572和-204的多态性位点为首次报道;我国汉族人群该区域的核酸差异性为(11.00±0.46)×10-4,低于非洲人群;与Malawi人群相比,我国汉族人群-1031C、-308A、-238A出现频率较低,而-857T的频率却较高;与Gambian人群相比,-863A和-857T出现频率较高,-308A出现频率较低;我国汉族人群TNF-α基因启动子区的-1031C、-863A、-857T与-572C、-308A、-238、-204C、-163C有相关性。结论:采用PCR-SBT方法可以成功对TNF-α基因启动子区的基因多态性进行研究,我国汉族人群TNF-α基因启动子区的基因多态性可能存在独特的特点。

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）. Resuits：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 Mrican 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.