骨髓增生异常综合征患者SOCS-1基因启动子甲基化及表达异常研究  

Aberrant methylation and expression of SOCS-1 gene in patients with myelodysplastic syndrome

作　　者：宋强[1] 徐佳 于媛[1] 赵川莉[1] 邱宗建 杨娟[1] 

机构地区：[1]山东大学齐鲁医院血液科,济南250012 [2]青岛经济技术开发区第一人民医院

出　　处：《临床血液学杂志》2014年第3期386-389,共4页Journal of Clinical Hematology

基　　金：山东省科技厅项目(No:Y2006C63)

摘　　要：目的:检测骨髓增生异常综合征(MDS)患者骨髓SOCS-1基因的表达水平及其启动子区甲基化情况,探讨SOCS-1基因异常甲基化在MDS发生、进展中的作用,为去甲基化药物治疗MDS提供新靶点。方法:应用甲基化特异性聚合酶链反应、逆转录PCR检测30例MDS患者骨髓SOCS-1基因mRNA表达水平及启动子区甲基化状态。结果:30例MDS患者骨髓中有16例检测到SOCS-1基因启动子甲基化,阳性率为53.3%。根据MDS的IPSS危险度分组,在高危MDS中65.2%(15/23)患者SOCS-1基因发生甲基化,而在低危MDS中甲基化比例只有14.3%(1/7),2组SOCS-1基因甲基化率差异有统计学意义(P<0.05)。在SOCS-1基因表达减低或缺失的16例患者中,10例(62.5%)发生启动子甲基化;而在SOCS-1基因表达正常的14例患者中,无一例发生SOCS-1基因启动子区异常甲基化,2组间SOCS-1基因甲基化率差异有统计学意义(P<0.05)。结论:MDS患者骨髓SOCS-1基因启动子区存在异常甲基化,此异常甲基化与SOCS-1基因表达失活密切相关。Objective：To examine the mRNA expression level of the SOCS-1gene and the methylation status of its promoter region in the bone marrow of patients with myelodysplastic syndromes（MDS）,and to explore the correlation between SOCS-1gene methylation and the pathogenesis and development of MDS.Method：Methylation specific PCR was employed to detect the methylation status of the SOCS-1gene promoter region in 30patients with MDS.Expression of SOCS-1 mRNA was determined by reverse transcription PCR.Result：Sixteen cases（53.3%）had an increased SOCS-1methylation in the promoter region.According to the MDS IPSS risk score,15 cases（65.2%）in 27high risk patients occurred SOCS-1 methylation,which was significantly higher than 1（14.3%）in 7low risk patients（P〈0.05）.Conclusion：Hyper-methylation of the SOCS-1promoter region may contribute to the loss of expression of SOCS-1mRNA in MDS.It is closely related to the pathogenesis of MDS and probably one of the mechanisms of MDS progression.

关 键 词：SOCS-1基因 DNA甲基化 CPG岛 骨髓增生异常综合征 

分 类 号：R733.7[医药卫生—肿瘤]