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目的检测骨髓增生异常综合征(MDS)患者骨髓p15基因的表达水平及其启动子区甲基化情况,探讨p15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(MS-PCR)、逆转录PCR(RT-PCR)检测32例MDS患者骨髓p15基因mRNA表达水平及启动子区甲基化状态。结果32例MDS患者骨髓有14例检测到p15基因启动子甲基化(阳性率为43.8%),且多为高危患者。32例MDS患者中22例骨髓p15mRNA表达水平明显降低(P<0.05)。MDS患者p15基因启动子甲基化与p15mRNA表达缺失具有明显相关性(P<0.05)。结论MDS患者骨髓p15基因启动子异常甲基化与基因表达失活密切相关,p15基因启动子区异常甲基化可能与MDS的发生、发展有关。
Objective To detect the expression of p15 gene and its promoter region methylation in patients with myelodysplastic syndrome (MDS) and to explore the role of abnormal methylation of p15 gene in the development and progression of MDS. Methods The bone marrow p15 mRNA expression and promoter methylation status were detected by methylation-specific PCR (MS-PCR) and reverse transcription-polymerase chain reaction (RT-PCR) in 32 patients with MDS. Results In the bone marrow of 32 patients with MDS, p15 gene promoter methylation was detected in 14 patients (positive rate was 43.8%), mostly in high-risk patients. In 32 MDS patients, the expression of p15mRNA in 22 cases of bone marrow decreased significantly (P <0.05). The methylation of p15 gene promoter in MDS patients was significantly associated with the loss of p15 mRNA expression (P <0.05). Conclusion Abnormal methylation of p15 gene promoter in bone marrow of MDS patients is closely related to inactivation of gene expression. Abnormal methylation of p15 gene promoter may be related to the occurrence and development of MDS.