慢性粒细胞白血病p53基因的点突变

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。

Point mutation of gene p53 in chronic myelogenous leukemia

The point mutations in exon 5, 6, 7, 8 of the p53 gene from bone marrow cells of twenty four cases with chronic myelogenous leukemia (CML) in various clinical phases were analyzed by technique of dideoxy fingerprinting (DDF) and compared with direct sequencing. Results showed that one of three accelerated phase samples, one blast crisis sample had point mutation, whereas any of 20 chronic phase samples had not point mula-tion. It was concluded that the point mutations of p53 gene were mainly found in accelerated phase and blast crisis phase but scarcely in chronic phase, and the point mutation of p53 gene may be involved in the translation from chronic phase to accelerated and blast crisis phase in CML.