PBX1基因剪切体表达与SLE的相关研究

Expression on the Gene Encoding for the Pre-B Cell Transcription Factor 1 and Its Association with Systemic Lupus Erythematosus

了解PBX1基因各种剪切体的表达在SLE患者和正常人中是否存在差异 ,探讨PBX1的表达与SLE发病的相关性。通过PCR扩增及毛细管芯片电泳 ,确证剪切体h、k、l存在于人体 ;通过实时荧光定量PCR技术 ,对剪切体h、k、l分别进行SLE患者组和正常组的mRNA表达定量比较。结果发现这 3种剪切体在患者组中的表达较正常人明显降低 ,正常人的表达是SLE的 9～ 12倍。重度患者的k、l剪切体与轻中度的病人相比表达明显降低 ,并发狼疮性肾炎的病人k剪切体的表达较无肾累及的病人显著降低。说明PBX1基因剪切体h、k、l在SLE患者中mRNA表达水平下降 ,并与SLE活动度及肾累及有关。

To define whether various types of transcripts of the pre-B cell leukemia transcription factor 1 (PBX1) has any difference between patients with SLE and the normal individuals and to investigate its disease association with SLE,we had found 12 types of the splicing variants of PBX1 by PCR and electrophresis with chip on a lab. The mRNA expression of patients with SLE and the ethnically matched normal controls was detected by fluorescence-based TaqMan real time quantitative PCR with ABI 7900 after the existance of 3 types of splicing variants (h,k,l) was evidenced. The results showed that the mRNA expression of the splicing variants h,k,and l of PBX1 in patients with SLE was nearly 9～12 times lower than that in the controls. The expression of splicing variant k and l in severe cases was rather lower in comparison with that of the light and moderate cases,and the expression of splicing variant k in SLE patients complicated with lupus nephritis was significantly lower than that of cases without nephritis. These results suggest that PBX1 gene may be involved in the pathogenesis of SLE.