急性髓系白血病中的NOTCH基因变异  

Mutations in the NOTCH Gene in AML

作　　者：付璐[1] 辛晓敏[1] 李洁[1] 张云平[1] 毕莉[1] 吴悦[1] 

机构地区：[1]哈尔滨医科大学附属第一医院,实验诊断教研室,黑龙江哈尔滨150001

出　　处：《中国血液流变学杂志》2010年第2期299-301,共3页Chinese Journal of Hemorheology

基　　金：哈尔滨医科大学附属第一医院院基金资助项目（2009L06）

摘　　要：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.

关 键 词：Notch蛋白 基因变异 急性髓系白血病 nested PCR 

分 类 号：R446.1[医药卫生—诊断学]