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Establishment of DNA methylation-related gene mutation detection method and analysis of clinical significance on acute myeloid leukemia

Abstract

目的:建立基于探针熔解曲线法的检测DNA甲基化相关基因突变的PCR体系,了解DNA甲基化相关基因突变在急性髓系白血病(Acutemyeloidleukemia,AML)患者中的发生率和类型,分析伴有DNA甲基化相关基因突变的患者的临床特征和突变在AML中的预后价值。 方法:利用重叠延伸法构建相应质粒,设计探针、引物,优化检测体系的相关参数,建立一种可快速检测DNA甲基化相关基因突变的方法。 收集133例急性髓系白血病患者的骨髓标本,提取细胞RNA,逆转录成cDNA,采用所构建的检测体系,对AML患者骨髓标本的cDNA进行IDH1,IDH2,DNMT3A基因突变检测,且将阳性结果测序验证。同...Objective: To establish a method to detect DNA methylation-related gene mutations by probe melting curve, which is based on real-time fluorescent PCR platform. To detect the frequency and forms of DNA methylation-related gene mutations in patients with acute myeloid leukemia (AML), and to investigate the relationship among DNA methylation related gene mutations, prognostic significance, and clinic...学位:医学硕士院系专业:医学院_内科学学号:2452010115328

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