类风湿关节炎患者的HLA-DM基因多态性分析

Study on HLA-DM polymorphisms in patients with rheumatoid arthritis in Chinese population

目的 :探讨我国汉族类风湿关节炎 (RA)患者的HLA DM(DMA和DMB)基因的多态性及与临床的相关性。方法 :应用多聚酶链反应 序列特异性寡核苷酸探针 (PCR SSOP)检测 96例RA患者及 10 0名正常人HLA DM基因第三外显子多态性 ,并应用PCR 限制性片段长度多态性分析 (PCR RFLP)筛选HLA DRB 0 4 0 5阳性个体。结果 :类风湿关节炎患者和正常人群的DM等位基因均以DMA 0 10 1和DMB 0 10 1为主 (分别为 86 5 %和87 5 % ,及 85 0 %和 90 0 % )。DM各等位基因表型频率在RA组和正常对照组之间均无显著性差异。HLA DRB1 0 4 0 5阳性的RA组与正常对照组之间也无显著性差异。DRB1 0 4 0 5阳性率、RF滴度在DMB 0 10 1组显著高于DMB 0 10 2组 (P值分别小于 0 0 1和 0 0 5 )。结论 :DM基因多态性可能不影响RA的易感性 。

Objective:To investigate HLA DM(DMA and DMB) gene polymorphisms and its clinical significance in patients with rheumatoid arthritis in Chinese population Methods:Ninety six RA patients and 100 matched control subjects were genotyped in the third exon of HLA DM gene by polymerase chain reaction/sequence specific oligonucleotide probe(PCR/SSOP) Meanwhile, the HLA DRB1*0405 positive individuals were screened by PCR/restriction fragment length polymorphism(PCR/RFLP) Results: No significant difference in the distribution of the DMA and DMB alleles was observed between RA patients and controls , as well as those between the RA patients with HLA DRB1*0405 and controls The patients with DMB*0101 gene had a higher frequencies of HLA DRB1*0405 and a higher RF titer than those with DMB*0102 allele( P <0 01 or 0 05) Conclusion:The HLA DM alleles may not have effect on the susceptibility of RA However, the DMB*0101 allele may play some important roles in the disease severity and activity of RA