【摘要】 目的:了解贵州汉族人群肿瘤坏死因子-α(tumor 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-PCR(SSP-PCR)方法,对贵州汉族人群中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%)。结论:贵州汉族人群中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。更多还原

【Abstract】 Objective: To study the single nucleotide polymorphisms (SNP) in the promoter region of tumor necrosis factor alpha (TNF-α)gene in Han population of Guizhou province. Methods: The five polymorphism sites at -1 031, -863, -857, -308, -238 in TNF-α gene promoter region were detected using PCR-RFLP and SSP-PCR and the data were analyzed statistically. Results: Allele frequencies of the five sites of TNF-α gene promoter region were obtained as the following: -238 G was 96%, -238 A 4%, -308 G 92%, -308 A 8%,-857 C 65%, -857 T 35%, -863 C 80%, -863A 20%, -1 031T 48%, and -1 031C 52% respectively. Conclusions: Unique characteristics exist in the SNP of TNF-α gene promoter region in Han population of Guizhou province. These results provide basic data for the study of the relationship between the polymorphism of TNF-α gene and the diseases.更多还原