系统性红斑狼疮患者脱氧核糖核酸酶1基因表达研究  

DeoxyribonucleaseⅠ gene expression in systemic lupus erythematosus patients*

作　　者：冯学兵[1] 沈南[1] 陈顺乐[1] 华晶[1] 孙莉[1] 钱捷[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：《中华医学遗传学杂志》2003年第6期477-481,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金项目 (30 2 71 2 2 4 );上海市科技发展基金 (0 1 JC1 4 0 2 9;0 2 QMB1 4 0 4 )~~

摘　　要：目的　研究脱氧核糖核酸酶 1(deoxyribonuclease ,DNASE1)基因表达及 m RNA剪接形式与系统性红斑狼疮 (systemic lupus erythematosus,SL E)的关联性。　方法　以实时荧光定量聚合酶链反应 (real- time PCR)方法检测 DNASE1的 m RNA表达水平 ,以毛细管电泳技术分析 m RNA编码区替代剪接体 ,结合单核苷酸多态性 (single nucleotide polymorphisms,SNPs)单倍型了解基因结构对表达的影响。　结果　SL E患者 DNASE1基因表达水平显著高于正常对照 (P<0 .0 0 1) ,未发现 SL E疾病活动性指数积分与基因表达水平存在相关性 ,但性别分析显示女性患者 DNASE1基因表达水平高于男性患者 (P<0 .0 1)。 8名正常人与 18例患者的毛细管电泳结果显示 ,患者与正常人替代剪接谱系不同 ,且 380 bp处存在明显条带 ,具有不同单倍型的 SL E患者替代剪接谱系亦有差异。　结论　 SL E患者 DNASE1基因表达异常 ,并存在与正常人不同的 m RNA剪接体。 DNASE1基因与 SLObjective To observe whether deoxyribonucleaseⅠ(DNASE1) gene expression and its alternatively spliced transcripts are related to systemic lupus erythematosus (SLE). Methods DNASE1 mRNA expression was detected by real-time polymerase chain reaction and its alternatively spliced transcripts were performed by capillary electrophoresis. An analysis was also made to disclose whether specific single nucleotide polymorphisms (SNPs) haplotype had effects on DNASE1 gene expression and its alternatively spliced transcripts. Results DNASE1 gene expression was higher in SLE patients than in normal controls (P<0.001), and in patients it was found to be of no relationship with SLE disease activity index score. However, it was increased in female patients. Capillary electrophoresis revealed that the pattern of alternatively spliced transcripts in patients was not the same as that in normal controls. Moreover, it seemed that different SNPs haplotype combination might show different transcript pattern in SLE patients. Conclusion In SLE patients, DNASE1 gene expression is abnormal and there are alternatively spliced transcripts different from those in normal controls. DNASE1 gene is a critical factor in the pathogenesis of SLE.

关 键 词：系统性红斑狼疮 脱氧核糖核酸酶1 基因表达 检测 mRNA剪接体 

分 类 号：R593.241[医药卫生—内科学] R394[医药卫生—临床医学]