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应用双脱氧指纹图(dideoxy fingerprinting,DDF)技术对不同临床分期的慢性粒细胞白血病(CML)24例骨髓细胞的p53基因的5,6,7,8外显子进行了点突变筛查分析,并用DNA测序技术对筛查到的突变进行确证。结果发现:慢性期20例中未检测到p53基因点突变;加速期3例中有1例在p53基因的第5外显子发生了错义突变,而该病例在慢性期并未发现相同位点的突变;急变期1例p53基因的第6外显子发生了错义突变。结论提示,p53基因的突变可能与慢性粒细胞白血病从慢性期发展到加速期和急变期的临床进程有关。
Dideoxy fingerprinting (DDF) technique was used to screen point mutations of exons 5, 6, 7, and 8 of the p53 gene in 24 bone marrow cells of different clinical stages of chronic myeloid leukemia (CML). Screening mutations were confirmed by DNA sequencing. It was found that p53 gene point mutations were not detected in 20 patients in the chronic phase and missense mutations in the exon 5 of the p53 gene were detected in 3 patients in the accelerated phase. This case was not found in the chronic phase. Point mutations; missense mutations occurred in exon 6 of the p53 gene in one case of blast crisis. Conclusions suggest that the mutation of p53 gene may be related to the clinical course of chronic myelogenous leukemia from the chronic phase to the accelerated phase and the blast phase.