摘要
Mutations in the NOTCH1 gene were investigated in 12 primary acute myeloid leukemia (AML) cell samples and eight AML cell lines. Mutations in the genomic DNA were screened using a nested PCR-SSCP analysis and confirmed by direct sequencing. A missense mutation, Pro2439Leu (7316C/T), was found in the PEST domain in one primary AML case. This mutation was different from those previously reported for T-cell acute lymphoblastic leukemia, in which more than half the cases had the mutations. This mutation was not detected in his sample in complete remission, which indicated that the mutation was not a single nucleotide polymorphism. The sample with the mutation expressed the intracellular Notch1 fragment by immunoblotting and HES1 mRNA by reverse transcription-polymerase chain reaction. This is the first paper to present an AML case with NOTCH1 mutation. The precise role of the mutation is to be determined.
摘要译文
在12例原发性急性骨髓性白血病（AML）细胞样本和8个AML细胞系中研究了NOTCH1基因突变。使用嵌套PCR-SSCP分析筛选基因组DNA中的突变，并通过直接测序证实。在一个原发性AML病例中，在PEST结构域中发现了错义突变Pro2439Leu（7316C / T）。该突变与以前报道的T细胞急性淋巴细胞白血病不同，其中超过一半的病例有突变。在其完全缓解的样品中未发现该突变，这表明突变不是单核苷酸多态性。具有突变的样品通过免疫印迹法表达细胞内Notch1片段，通过逆转录聚合酶链反应表达HES1 mRNA。这是第一篇提出具有NOTCH1突变的AML病例的论文。确定突变的确切作用。
Lu Fu[1];Hanae Kogoshi[1];Nobuo Nara[1];Shuji Tohda[2]. NOTCH1 mutations are rare in acute myeloid leukemia[J]. Leukemia & Lymphoma, 2006,47(11): 2400-2403