急性髓系白血病中的NOTCH基因变异

Mutations in the NOTCH Gene in AML

在12例急性髓系白血病患者与8例急性髓系白血病细胞株中寻找Notch1基因变异.应用nested-PCR法,银染色- SSCP,direct sequencing法分析.在患者9的白血病细胞中PEST部位发现点突变（7316C/T）,氨基酸也随之发生变异 （Pro2439Leu）.该基因变异是首次在AML细胞中发现的Notch1基因变异.由于在患者9的完全缓解的骨髓细胞中没有发现该突变,因此该突变不是SNP.有关该变异的具体作用机制还有待于进一步探讨.

Mutations in the NOTCH I gene were investigated in 12 primary acute myeloid leukemia（AML） cell samples and 8 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.This is the first paper to present an AML case with NOTCHI mutation.The precise role of the mutation is to be determined.