湖北地区汉族人群TNF-β804C/A多态性研究

Distribution of tumor necrosis factor-β 804C/A polymorphisms in Chinese Han population

目的 了解中国湖北地区汉族人群肿瘤坏死因子 - β(TNF - β)基因第三外显子 80 4位点单核苷酸多态性(singlenucleotidepolymorphism ,SNP)分布 ,并与其它种族进行比较。方法 收集湖北地区 2 5 7名无血缘关系健康个体的静脉血 ,提取DNA ,应用套式PCR(nestedPCR)和等位基因特异性PCR(allele-specificPCR ,AS -PCR) ,对TNF - β基因 80 4C/A多态性进行分析 ,并与其它种族的分布进行比较。结果 TNF - β检测到 3种基因型 ,基因型频率分别为CC型 37 2 % ,CA型4 5 6 % ,AA型 17 2 % ,基因型分布符合Hardy-Weinberg定律。统计分析显示湖北地区汉族人群TNF - β基因型分布与欧洲白种人及日本人有显著性差异 (P <0 .0 5 ) ,等位基因频率与欧洲白种人有显著性差异 (P <0 .0 5 )而与日本人则无显著性差异 (P >0 .0 5 )。结论 湖北地区汉族人群中存在TNF - β基因多态性 ,其突变率较高 ,与其它种族比较分布有明显的差异 ,这种差异可能是导致一些疾病在不同种族间的表现有所不同的遗传因素之一。

Objective: To investigate the distribution of the single nucleotide polymorphism(SNP) of the 804C/A site in tumor necrosis factor-β(TNF-β0 gene in a Chinese healthy Hans population in Hubei province. Methods: TNF-β gene polymorphisms were studied by using nested PCR and allele specific PCR(AS-PCR) technique in 257 Chinese Hans. Results: They detected three genotypes CC(37.2%),CA(45.6%),AA(17.2%).There was no significant difference between male and female, but compared with other ethnics, the distributions of TNF-β genotypes were significantly different between Chinese and European, Japanese (P<0.05).Conclusions: They found a single nucleotide polymorphism (SNP) at position 804 in the exon 3 of TNF-β gene exists in Han population of Hubei, and its distribution is significantly different among ethnics. Such differences may be a genetic factor that contribute to the different pathogenesis, progress and prognosis in some diseases among ethnics.