【摘要】 目的探讨中国浙江地区汉族人群中巨噬细胞移动抑制因子(MIF)基因单核苷酸多态性(SNP)分布,分析其与炎症性肠病(IBD)的相关性。方法分别应用四引物突变特异性扩增系统(ARMS)法和限制性片段长度多态性(RFLP)-PCR方法对142名健康个体和99例IBD患者MIF基因-173位点SNP多态性进行分型,并将PCR产物克隆及测序鉴定。结果MIF基因-173位点检测到3种基因型,其基因型分布皆符合Hardy-Weinberg平衡定律。四引物ARMS法和RFLP-PCR两种方法结果完全一致。统计分析显示,溃疡性结肠炎(UC)患者MIF-173位点CC基因型频率15.5%显著高于正常人中的5.6%(P<0.05)。MIF-173位点等位基因和基因型频率在IBD患者和正常人群中差异无统计学意义(P>0.05)。进一步分析发现CC基因型与UC患者的临床特征无关。结论四引物ARMS是一种准确、快速和经济的SNP测定方法。MIF-173位点CC基因型可能与UC的发生相关。更多还原

【Abstract】 Objective:The study is to investigate whether macrophage migration inhibitory factor(MIF)-173 single nucleotide polymorphism(SNP) correlates with inflammatory bowel disease(IBD) in Chinese Han population in Zhejiang Province.Methods:MIF-173 SNP alleles were typed using tetra- primer amplification refractory mutation system(ARMS) and restriction fragment length polymorphisms(RFLP)-PCR in 142 healthy subjects and 98 patients with inflammatory bowel disease(IBD),respectively.At the same time,the PCR products were cloned and sequenced.Results:We detected three kinds of genotypes at the MIF-173 locus,no deviation from Hardy-Weinberg equilibrium were observed.The result was the same from tetra-primer ARMS and RFLP-PCR.Statistical analysis showed,the frequency of MIF-173 CC genotype was significantly higher in patients with ulcerative colitis(UC) 15.5% than in healthy individuals 5.6%(P<0.05).There was no significant difference of allelic frequency and genotype frequency at the MIF-173 locus between Crohn’s disease(CD) patients and healthy controls.However CC genotype wasn’t related to clinical feature in patients with UC.Conclusion:Tetra-primer ARMS is an accurate,rapid and economical SNP genotyping method.MIF-173 CC genotype may be associated with the susceptibility to UC.更多还原