上海地区汉族白塞病与HLA-B*51关联研究  

Study on the association between the HLA-B*51 gene with Behcet's disease in Shanghai area

作　　者：许玲娣[1] 陆瑜[2] 范丽安[1] 杨珏琴[1] 姚芳娟[3] 顾越英[2] 

机构地区：[1]上海第二医科大学上海市免疫学研究所,上海200025 [2]上海第二医科大学附属仁济医院风湿科,上海200001 [3]上海第二医科大学 上海市免疫学研究所,上海200025

出　　处：《现代免疫学》2005年第2期141-144,共4页Current Immunology

基　　金：上海市高等学校科技基金资助项目(02BZ31)上海第二医科大学自然科学研究基金项目(02XJ21012)

摘　　要：为探讨白塞病的发病机制与HLAI类基因之间的关系,我们采用聚合酶链反应/顺序特异的寡核苷酸探针(PCR-SSO)反向杂交方法,对上海地区汉族69例白塞病患者及296例正常对照进行HLA-A、B基因的检测。结果显示白塞病患者组中HLA-B*51基因检出频率(34.8%)显著高于正常对照组(12.8%),X2和RR值分别为19.11和3.62(P<0.0001,Pc<0.005)。完全型白塞病患者组HLA-B51基因频率(52.4%)更是远远高于对照组,X2和RR值分别为39.4和7.5,(P<0.00001,Pc<0.001)。此外,HLA-B*46基因检出频率(26.1%)较对照组(11.1%)高,Pc<0.05。推测上海地区汉族白塞病的发病与HLA-B*51基因相关;患者组中HLA-B*46频率升高,可能与HLA-B*51一起参与白塞病的发病或因与患者组中某些HLA单倍型组合之间存在连锁不平衡有关。To explore the relationship of development of Behcet's disease and the HLA I class genes, the detections of the HLA-A and HLA-B genes were undertaken in 69 cases of Behcet's disease and 296 healthy individuals in Shanghai area by means of reverse PCR/SSO method. The results revealed that the frequency of the HLA-B*51 gene was significantly high in patients with Behcet's disease (34.8%) than in healthy controls (12.8%), Pc< 0.005, RR=3.62. In patients with complete type of Behcet's disease, the frequency of the HLA-B*51 gene (52.4%) was even higher than that of the healthy controls, Pc<0.00001; RR=7.5. The frequency of the HLA-B*46 gene in patients with Behcet's disease (26.1%) was also higher than that of the healthy controls (11.1%), Pc<0.05; RR= 2.81. These data suggest that the HLA-B*51 gene is associated with development of Behet's disease in Shanghai area. The significantly increased frequency of HLA-B*46 in patients group might be due to its associated contribution in the development of Behet's disease with HLA-B*51 gene or the linkage disequilibrium of HLA haplotype combination in patients.

关 键 词：白塞病 HLA—B＊51基因 PCR/SSO反向杂交 连锁不平衡 

分 类 号：R392.2[医药卫生—免疫学]