HLA-DR2、DRB1*0301、DQA1*0501基因频率与肌炎及其临床表现的相关性分析  

AN ANALYSIS OF RELATIONSHIP BETWEEN THE GENE FREQUENCY OF HLA DR2,DRB1*0301,DQA1*0501 AND THE CLINICAL MANIFESTATIONS AND THE LABORATORY FINDINGS IN PATIENTS WITH PM/DM

作　　者：臧松 邓学新[1,2] 甘晓丹 宋慧[1,2] 唐福林 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院 [2]北京积水潭医院

出　　处：《中华风湿病学杂志》1998年第4期208-210,共3页Chinese Journal of Rheumatology

摘　　要：目的：观察人类白细胞相关抗原ＨＬＡＤＲ２、ＤＲＢ１０３０１、ＤＱＡ１０５０１基因频率与多发性肌炎／皮肌炎（ＰＭ／ＤＭ）发病及其临床表现的关系。方法：特异性引物聚合酶链式反应（ＰＣＲＳＳＰ）方法分别测定３１例ＰＭ／ＤＭ患者及５０例正常人的ＨＬＡＤＲ２、ＤＲＢ１０３０１及ＨＬＡＤＱＡ１０５０１的基因频率。结果：三种基因型在３１例肌炎患者中基因频率分别为６４５％，９６８％和７７４２％，而在正常对照组的相应基因频率分别为３２％，６％，２２％；其中，ＨＬＡＤＲ２、ＨＬＡＤＱＡ１０５０１较正常对照均有显著性差异，ＨＬＡＤＲＢ１０３０１则无显著差异；肌炎患者中ＨＬＡＤＱＡ１０５０１等位基因携带者与不携带该基因者其临床表现无明显区别。Objective:To compare the gene frequencies of HLA DR2、DRB1*0301、DQA1*0501 alleles with the pathogenesis and clinical manifestations of PM/DM.Methods:Thirty one PM/DM patients and 50 healthy control subjects were examined separately by PCR SSP to get the gene frequencies of the three alleles.Results:The gene frequency of HLA DR2 allele (6 45%) was much lower in PM/DM patients than that in normal subjects while the gene frequency of HLA DQA1*0501(77 42%) was much higher,the gene frequency of HLA DRB1*0301 had no difference between the two groups.Conclusion:HLA DR2 may play a protective role in the pathogenesis of PM/DM,while HLA DQA1*0501 is a risk factor of the diseases.

关 键 词：多发性肌炎 皮肌炎 人白细胞抗原 基因 临床表现 

分 类 号：R593.260.2[医药卫生—内科学] R685.202[医药卫生—临床医学]