系统性红斑狼疮患者16号染色体候选基因表达研究  

Candidate Gene Expression of Chromosome 16 in SLE Patients

作　　者：冯学兵[1] 沈南[1] 陈顺乐[1] 钱捷[1] 吴慧[1] 

机构地区：[1]上海第二医科大学附属仁济医院风湿科,200001

出　　处：《中华皮肤科杂志》2003年第6期322-324,共3页Chinese Journal of Dermatology

基　　金：国家自然科学基金项目(30271224);上海市科技发展基金(01JC14029);上海市青年科技启明星后跟踪计划(02QMB1404);霍英东青年教师基金(81030)

摘　　要：目的研究已发现16号染色体存在系统性红斑狼疮(SLE)易感位点,结合基因芯片结果,选择16号染色体OAZ、CARD15、DNAJA2、IL-4R4个基因作为候选基因进行表达研究。方法SLE患者42例(以SLEDAI进行活动性评分),正常人对照36例,抽提静脉全血RNA,逆转录为cDNA,加入相应的Taqman引物、探针在ABIPrism7900型高通量荧光定量PCR仪上进行荧光实时定量PCR,采用看家基因GAPDH进行标化。结果SLE患者OAZ基因表达水平为正常人对照的2.22倍,CARD15为2.51倍,均显著高于正常人对照(P<0.01);DNAJA2为1.19倍,与正常人比较差异无显著性;IL-4R为0.47倍,显著低于正常人对照(P<0.01)。结论SLE患者16号染色体存在疾病相关基因,OAZ、CARD15表达增高,IL-4R表达降低,这些基因参与了不同的调控通路,需要进行结构与功能相关性的研究以进一步明确。Objective To investigate the susceptible gene loci of SLE.Methods Susceptible loci of chromosome16were found in systemic lupus erythematosus(SLE).According to our previous linkage map-ping and gene chip data,four genes named OAZ,CARD15,DNAJA2and IL-4R were chosen as candidate genes for gene expression research.mRNA extracted from whole blood of42SLE patients and36normal controls were reversely transcipted to cDNA.Then Taqman probe and primers were added to perform real-time PCR in ABI Prism誖7900HT sequence detection system.Housekeeping gene GAPDH was used as a control.Results OAZ and CARD15gene expression was significantly higher in SLE patients than those in normal controls(P<0.001),while IL-4R expression was lower than that in normal controls(P<0.01).No significant difference was found in DNAJA2gene expression.Conclusion There are several disease associ-ated genes of chromosome16in SLE patients in which OAZ and CARD15expression is high and IL-4R ex-pression is low.These genes may participate in different pathways in SLE pathogenesis.

关 键 词：系统性红斑狼疮 16号染色体 基因芯片 易感位点 免疫性疾病 细胞周期 细胞增殖调控 

分 类 号：R593.241[医药卫生—内科学]