骨髓增生异常综合征患者p15^(INK4B)基因甲基化状态的研究  

Methylation status of p15^(INK4B) gene in patients with myelodysplastic syndromes

作　　者：王亚屏[1] 宋强[1] 李丽珍[1] 赵川莉[1] 王鲁群[1] 

机构地区：[1]山东大学齐鲁医院血液科,济南250012

出　　处：《临床血液学杂志》2009年第6期571-573,共3页Journal of Clinical Hematology

摘　　要：目的:检测骨髓增生异常综合征(myelodysplastic syndromes,MDS)患者抑癌基因p15INK4B启动子区异常甲基化情况及其mRNA表达水平,探讨p15INK4B基因异常甲基化在MDS发生、发展中的作用。方法:应用甲基化特异性PCR检测32例MDS患者骨髓p15INK4B基因启动子区甲基化状态,逆转录PCR(RT-PCR)检测p15mRNA表达情况。结果:32例MDS患者骨髓有14例检测到p15INK4B基因启动子甲基化(甲基化阳性率为43.8%),且多为高危型患者。MDS患者骨髓p15mRNA表达水平明显降低。MDS患者p15INK4B基因启动子甲基化与p15mRNA表达缺失具有明显的相关性。结论:MDS中p15INK4B基因启动子高甲基化与基因表达失活密切相关,并在MDS的发生、发展中有重要作用。Objective：To examine the methylation status of the p15^INK4B promoter region and its mRNA expression levels in myelodysplastic syndromes（MDS）,and to explore the role of p15^INK4B gene methylation in pathogenesis and development of MDS.Method：Methylation specific PCR（MS-PCR） was used to examine the methylation status of p15^INK4B promoter region in the bone marrow of 32 patients with MDS.Reverse transcription PCR（RT-PCR） was used to detect the mRNA expression levels of p15^INK4B.Result：Fourteen cases were found to have an increased methylation in the promoter region,especially in patients with high risk MDS.p15^INK4B mRNA level was significantly decreased in patients with MDS.There was a significant correlation between p15^INK4B methylation and mRNA decrease.Conclusion：Hypermethylation of the p15^INK4B promoter region might contribute to the loss of expression of p15^INK4B mRNA in MDS.The hypermethylation of this promoter region was closely related to the pathogenesis of MDS.

关 键 词：骨髓增生异常综合征 基因 P15^INK4B DNA甲基化 CPG岛 

分 类 号：R551.3[医药卫生—血液循环系统疾病]