贵州三个主要民族人群TNF-α基因启动子区单核苷酸多态性分析

Study on the single nucleotide polymorphisms of TNF-α of gene in the promoter region in three main ethons population in Guizhou province

目的:了解贵州汉族、苗族、布依族人群肿瘤坏死因子α(Tumour necrosis factor alpha,TNF-α)基因启动子区的基因多态性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和序列特异性引物-聚合酶链反应(SSP-PCR)方法,对贵州汉族、苗族、布依族人群中TNF-α基因启动子区已知的5个多态性位点进行基因分型检测,并用统计学方法分析各位点基因型、等位基因频率和单倍型及其组间差异。结果:贵州汉族人群中TNF-α基因启动子区5个位点的等位基因频率分别为-238(G,96%;A,4.0%)、-308(G,92%;A,8%)、-857(C,65.0%;T,35.0%)、-863(C,80.0%;A,20.0%)、-1031(T,48.0%;C,52.0%),其单倍型以GG-GG-CC-CC-TC和GG-GG-TT-CC-TC为主,分别占32.0%和28.0%;苗族人群中TNF-α基因启动子区5个位点的等位基因频率分别为-238(G,85.0%;A,15.0%)、-308(G,94.0%;A,6.0%)、-857(C,74.0%;T,26.0%)、-863(C,96.0%;A,4.0%)、-1031(T,50.0%;C,50.0%),其单倍型以GG-GG-CC-CC-TC和GG-GG-TT-CC-TC为主,分别占50.0%和24.0%;布依族人群中TNF-α基因启动子区5个位点的等位基因频率分别为-238(G,86.0%;A,14.0%)、-308(G,92.0%;A,8.0%)、-857(C,89.0%;T,11.0%)、-863(C,84.0%;A,16.0%)、-1031(T,50.0%;C,50.0%),其单倍型以GG-GG-CC-CC-TC占54.0%,AA-GG-CC-CC-TC和GG-GG-CC-AA-TC各占12%。结论:贵州汉族、苗族、布依族人群中TNF-α基因启动子区单核苷酸多态性具有独特的特征,这为TNF-α基因多态性与疾病的相关性研究提供了基础资料。

Objective： To study single nucleotide polymorphisms in the promoter region of TNF-α gene in Chinese Han, Miao and Buyi population in Guizhou province. Methods：The five polymorphism sites at - 1031, - 863, - 857, - 308, - 238 in TNF-α gene promoter region were detected using PCR-RFLP and SSP-PCR. Results：The allele frequencies of TNF-α gene in promoter region in these three main ethons of population were observed. In Chinese Han population,the - 238 G was 96% and - 238 A was 4%. Inaddition, - 308 G was 92% and - 308 A was 8%, - 857 C was 65% and - 857 T was 35%, - 863 C was 80% and - 863 A was 20%, - 1031 T was 48% and - 1031 C was 52% ;In Miao people,the frequency at the loci above were 15.0% ,8.0% ,26.0% ,4.0% and 50.0% ;And the frequency of these five loci above were 14.0%, 6.0%, 11.0%, 16.0% and 50.0% in Buyi population. Conclusion： Single nucleotide polymorphisms of TNF-α gene exhibits some specific characters in Chinese Han and Miao and Buyi population in Guizhou province.