摘要
目的研究9P21区的CDKN2A和CDKN2B基因甲基化在儿童急性髓系白血病(AML)中的发生率及其与临床特征及预后的相关性。方法回顾性分析2010年4月至2012年12月被诊断为AML的58例患儿的临床资料。选取38例健康志愿儿童为对照组,采集两组儿童的骨髓或外周血,常规提取基因组DNA;应用甲基化特异性-多重连接酶依赖性探针扩增法(MS-MLPA)检测CDKN2A和CDKN2B基因甲基化情况。结果进行检测的健康儿童未发现基因甲基化。58例患儿中,44例检测到甲基化探针。CDKN2A基因甲基化涉及136 bp和237 bp探针;CDKN2B基因甲基化涉及130 bp、210 bp、220 bp和417 bp探针。CDKN2A基因甲基化率仅为5%,而CDKN2B基因甲基化率为76%。部分探针甲基化与初诊时的性别、血红蛋白和血小板水平有关。结论儿童AML患者CDKN2B基因甲基化率较高,而CDKN2A基因甲基化率较低。
Objective To investigate the methylation rate of cyclin-dependent kinase inhibitor 2A （CDKN2A） and cyclin-dependent kinase inhibitor 2B （CDKN2B） in the 9P21 region in children with acute myeloid leukemia （AML） and the association of gene methylation with clinical features and outcomes. Methods The clinical data of 58 children who were newly diagnosed with AML between January 2010 and December 2012 were retrospectively analyzed. Thirty-eight healthy children were recruited as the control group. Genomic DNA was extracted from bone marrow or peripheral blood of the 58 patients and 38 healthy children. The methylation status of CDKN2A and CDKN2B was analyzed by methylation-speciifc multiplex ligation-dependent probe ampliifcation. Results Gene methylation was not found in healthy children. Methylation probes of 44 patients were detected in 58 patients. The methylation of CDKN2A was detected with 136 bp and 237 bp methylation probes. The methylation of CDKN2B was detected with 130 bp, 210 bp, 220 bp, and 417 bp methylation probes. The methylation rate of CDKN2A was 5%, while the methylation rate of CDKN2B was 76%. The methylation detected by some probes was associated with sex, hemoglobin, and platelet count at the first visit. Conclusions The methylation of CDKN2B is a common event in children with AML, while the methylation of CDKN2A is relatively rare.
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2015年第1期6-10,共5页
Chinese Journal of Contemporary Pediatrics
基金
国家自然科学基金(81200396)
协和青年科研基金(2012J17)
天津市科技支撑计划(12zcdzsy18100)
