骨髓增生异常综合症患者中的NOTCH1基因变异

Mutations in the NOTCH Gene in MDS

目的 Notch1基因变异出现在半数以上的T-ALL 患者中,对T-ALL 的发生发展有着重要的意义.通过该试验在骨髓增殖异常综合症（MDS）患者中寻找Notch1基因变异.方法 20例MDS患者的骨髓细胞,应用nested-PCR法,银染色-SSCP,direct sequencing法分析.结果 在患者1的白血病细胞中发现,在第27号外显子的第5,097个对偶基因的G变异为A.然而该变异是在基因库中可查找的SNP.结论 在MDS患者中没有发现Notch1基因的变异.

Mutations in the NOTCHI gene were investigated in 20 myelodysplastic syndrome（MDS） cell samples.Mutations in the genomic DNA were screened using a nested PCR-SSCP analysis and confirmed by direct sequencing.A DNA change（G/A）,was found in the PEST domain in one MDS case.This was not mutation,but a single nucleotide polymorphism（SNP：ss12681）.Different from those previously reported for T-cell acute lymphoblastic leukemia, in which more than half the cases had the mutations,the mutation of MDS case was not detected.