系统性红斑狼疮患者MBL基因启动子区多态性的研究  

Study on Polymorphism in Promoter Region of Mannose Binding Lectin Gene in Patients with Systemic Lupus Erythematosus

作　　者：王艾丽[1] 马玉倩[1] 方蓉[1] 马百坤[1] 齐名[1] 熊华[1] 

机构地区：[1]南京军区南京总医院检验科,南京210002

出　　处：《标记免疫分析与临床》2005年第4期217-219,213,共4页Labeled Immunoassays and Clinical Medicine

摘　　要：探讨系统性红斑狼疮(SLE)患者甘露糖结合凝集素(MBL)基因启动子区-550(H／L)和-221(X／Y)位点多 态性及其与血清MBL含量的关系。用序列特异性引物聚合酶链(SSP-PCR)法分析SLE组62例和正常组54名 MBL基因启动子区-550(H／L)和-221(X／Y)位点多态性,同时用ELISA检测血清MBL水平。两组均存在HY、 LY、LX单倍型,SLE组单倍型LX显著高于对照组(OR 2．23;95％CI 1．09-4．55;P=0．02);SLE组HY／HY 基因型MBL水平显著高于其他基因型患者的MBL水平(LY／LY,LX／LX,HY／LY,HY／LX,LY／LX, P<0．05);SLE组和对照组MBL含量低于1000 μg／L者分别为40．32％和14．81％,两组相比有显著性差异 (OR 3．89;95％CI 1．57-9．62;P=0．002)。SLE组的血清MBL含量明显降低,与基因启动子区单倍型LX增 高相关。The relationship between polymorphisms in the promoter region of mannose binding lectin （MBL） gene and the serum levels of MBL in patients with systemic lupus erythematosus （SI.E） was investigated. The polymorphism of alleles-550（H/L） and-221（X/Y） in the promoter region of MBI. gene was analyzed by polymerase chain reaction with sequence-specific primers （SSP-PCR） in 62 patients with SI.E and 54 healthy controls. The serum level of MBL was also determined by ELISA. The results showed that three haplotypes, HY, LYand LX, were presented in both groups. The frequency of haplotype LX in SI.E patients were significantly higher than that in healthycontrol（OR,2.23; 95% CI,1.09～4.55;P=0.02）. The serum level of MBI. in SLE patients with genotype HY/HY was significantly higher than that in the patients with other genotypes （LY/LY, LX/LX, HY/LY, HY/LX and LY/LX,P〈0. 05）. There was a significant difference for the percentage of subjects with MBL level in serum lower than 1000 μg/L between SI.E patients （40.32%） and controls （14.81%） （OR,3.89; 95% CI, 1.57～9.62; P=0.002）. Therefore, low serum level of MBLin SI.Epatients may be associated with increased frequency of haplotype LX.

关 键 词：系统性红斑狼疮 甘露精结合凝集素 基因启动子区多态性 血清 

分 类 号：R593.241[医药卫生—内科学]