河南省汉族人群肿瘤坏死因子α基因启动子区单核苷酸多态性

目的研究河南省汉族人群无关个体217例肿瘤坏死因子α(TNF-α)基因启动子区的-238G/A、-308G/A、-850C/T、-863C/A共4个单核苷酸多态性(SNPs)位点的遗传多态性。方法采用限制性酶切片段长度多态性(RFLP),结合质量分数6%聚丙烯酰胺凝胶电泳-银染法对SNPs位点进行分型。结果选择的TNF基因上4个SNPs位点等位基因和基因型频率分布在河南省汉族人群均符合Hardy-Weinberg遗传平衡定律,各等位基因频率均大于5%,等位基因最小频率分布在5.8%～14.1%。4个SNPs位点共观察到21种组合基因型,杂合度为0.461。根据SHEsis软件推测出11种单体型,单体型多样性为0.608。结论河南省汉族人群TNF基因4个SNPs位点及其组成的单体型具有较高的多态性,在法医学实践中有一定的应用价值,同时为人类遗传学的研究提供基础资料。

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.