慢性粒细胞性白血病不同病期bcr-abl基因P_(53)基因突变研究

Analysis of mutations of bcr-abl gene and P_( 53) gene in different phases of chronic myelogenous leukemia

探讨 bcr- abl融合基因、P53 基因对 CML不同病期演变的作用 .采取 CML2 6例不同分期共30份标本 ,应用逆转录—聚合酶链反应 (RT- PCR)技术检测 bcr- abl融合基因 ,应用多聚酶变 .结果显示 2 4例 CML慢性期中 2 2例 bcr- abl基因 (+ ) ,6例急变期中 5例 bcr- abl基因 (+ ) ;CML慢性期未发现 P53 基因突变 (0 / 2 4 ) ,急变期发现 2例突变 (2 / 6 ) .2例 P53 基因突变中 ,1例 bcr- abl基因(+ ) ,1例 bcr- abl基因 (- ) .由此可得 P53 基因突变在 CML慢性期少见 ;P53 基因突变对部分

Our objective was to investigate the effect of mutations of bcr-abl fusion gene and P 53 gene in various clinical phases.The polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used to detect mutations of the P 53 gene while the reverse transcriptase-polymerase chain reaction(RT-PCR) was used to detect bcr-abl gene. 30 samples were analyzed from 26 patients with chronic myelogenous leukemia in the chronic phase(CP) and blast crisis(BC).Results were (1)Twenty-two of 24 CP samples showed the bcr-abl gene to be positive;five of 6 BC samples showed the bcr-abl gene positive.(2)No mutation of P 53 gene was detected in 24 CP samples while two of 6 BC samples showed P 53 mutations.One of the two samples with P 53 mutations showed the bcr-abl gene positive,the other being negative.Hence,we conclude that the mutations of P 53 are not frequently seen in samples from CML-BC.However, mutations of P 53 gene do occur and may contribute to the progression from chronic phase to blast crisis in a limited number of patients with CML.