【摘要】 目的　探讨中国湖北地区汉族人群肿瘤坏死因子 (tumor necrosis factor,TNF)微卫星遗传多态性分布。方法　收集湖北地区 16 4名无血缘关系健康个体的静脉血 ,提取 DNA,应用 PCR结合变性聚丙烯酰胺凝胶高压电泳和 Ag NO3 染色 ,对 TNF微卫星进行分型 ,并将 PCR产物克隆及测序鉴定。结果　TNFa检测到 13个等位基因 ,40种基因型 ;TNFc检测到 2个等位基因 ,3种基因型。 TNFa和 TNFc位点多态信息含量分别为 0 .80和 0 .2 8,两者基因型分布皆符合 Hardy- Weinberg平衡定律。统计分析显示 ,中国汉族人 TNFa等位基因频率分布与欧洲白种人、日本人比较 ,差异具有显著性 (P<0 .0 1)。测序发现相同TNFa等位基因包含的 (AC)重复序列拷贝数与国外文献报道不一致。结论　 TNFa等位基因频率分布具有种族的差异性 ,其等位基因定义内容尚需进一步确定。更多还原

【Abstract】 Objective To investigate the distribution of tumor necrosis factor(TNF) microsatellite polymorphisms in Chinese. Methods DNA was extracted from 164 unrelated healthy individuals’ EDTA-blood.TNF microsatellite alleles were typed using PCR technique,followed by high-voltage denaturing PAGE,with silver staining.At the same time, the PCR products were cloned and sequenced. Results Thirteen alleles and forty kinds of genotypes were detected at the TNFa locus; two alleles and three kinds of genotypes at the TNFc locus.The polymorphism information contents (PIC) were 0.80 and 0.28 respectively.No deviation from Hardy-Weinberg equilibrium was observed. Statistical analysis showed that the distribution of TNFa allele frequencies in Chinese Han population was significantly different from that in European Caucasian or in Japanese(P<0.01).The result of sequencing revealed that the copy number of dinucleiotide repeats within the same TNF allele was not consistent with that in the reports from western countries.Conclusion There exists ethnic difference in the distribution of TNFa alleles.Further investigations will be necessary to define more accurately and clearly the TNFa alleles.更多还原