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目的 明确我国汉族人群中炎症性肠病(IBD)患者肿瘤坏死因子(TNF)的基因多态性,探讨IBD的发病机制。方法 采用聚合酶链反应(PCR)、限制性片段长度多态性分析(RFLP)技术对131例IBD患者的TNFα和TNFβ基因多态性进行分析。结果 溃疡性结肠炎(UC)患者TNFα-308 位点基因型频率(15.5%)及等位基因频率(8.7%)显著高于正常人群的4.1%和2.0%(P<0.01),克罗恩病(CD)患者TNFα-308位点基因型频率及等位基因频率与正常人群比较差异无统计学意义(P>0.05);UC和CD患者TNFβ+252位点的基因型频率及等位基因频率与正常人群比较差异无统计学意义(P>0.05);TNFα-308与TNFβ+252位点基因多态性与IBD患者的年龄、性别、疾病的活动性及发病部位比较差异无统计学意义。结论 TNFα-308等位基因与UC发病的易感性相关,TNFα-308 的基因多态性与CD的发病无关;TNFβ+252的基因多态性与IBD的发病无关。
Objective To determine the gene polymorphism of tumor necrosis factor (TNF) in patients with inflammatory bowel disease (IBD) in Chinese Han population and to explore the pathogenesis of IBD. Methods The polymorphisms of TNFα and TNFβ in 131 IBD patients were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results The frequency of genotype (15.5%) and allele (8.7%) of TNFα-308 in patients with ulcerative colitis were significantly higher than those in normal controls (4.1% vs 2.0%, P <0.01) There was no significant difference in genotype frequency and allele frequency of TNFα-308 locus in patients with disease (CD) compared with normal controls (P> 0.05). The genotype frequency and allele of TNFβ + 252 locus in UC and CD patients There was no significant difference in frequency between the two groups (P> 0.05). There was no significant difference in the gene polymorphisms of TNFα-308 and TNFβ + 252 between IBD patients and age, gender, disease activity and disease location . Conclusion The TNFα-308 allele is associated with the susceptibility to UC. The gene polymorphism of TNFα-308 is not associated with the pathogenesis of CD. The gene polymorphism of TNFβ + 252 is not associated with the pathogenesis of IBD.