肿瘤坏死因子α基因多态性与炎症性肠病相关性的研究

Correlation of the polymorphism of TNFα gene and inflammatory bowel disease in Chinese population

背景多项研究证明TNFα基因启动子序列的G-308A多态位点与西方白种人炎症性肠病(IBD)明显相关。目的初步探讨TNFα基因G-308A位点的遗传多态性和中国部分汉族人IBD发病易感性之间的关系。方法采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)检测50例健康对照者、45例克罗恩病患者和45例溃疡性结肠炎患者该位点的基因多态性。结果TNFα基因G-308A位点在三组研究对象中均未发现突变型基因型。结论TNFα基因G-308A位点的基因多态性可能与中国汉族人炎症性肠病无相关性。

Objective Several studies have identified that the single nucleotide polymorphism （SNP） G- 308A in TNFα gene is associated with inflammatory bowel disease （IBD） in white people. Aim of this study is to investigate the association between SNP which lies in TNFα gene and susceptibility to inflammatory bowel disease （IBD） in Chinese Han ethnic population. Methods The mutation was detected by polymerase chain reaction and restriction fragment length polymorphism （PCR- RFLP） in Cronh＇s disease, ulcerative colitis and normal control groups. Results No mutant genotype of G-308A in TNFα gene was found in all three groups. Conclusion The gene polymorphism of G-308A in TNFα gene was not associated with the susceptibility to IBD in Chinese Han ethnic population.