抑癌基因Rox在白血病细胞中的表达和突变

Expression and mutation analysis of the tumour suppressor gene Rox in leukemia cells

目的分析 Rox 基因突变在白血病发病中的作用。方法利用反转录-聚合酶链反应(RT-PCR)、单链构象多态性(SSCP)分析及 DNA 序列分析技术,检测26例初治急性白血病(AL)患者、30名正常健康志愿者和7种白血病细胞系 Rox 基因表达及突变情况。结果 RT-PCR 显示所有标本中均可检测到 Rox 基因的表达,在3例初治 AL 患者发现3处错义突变,突变率为11.5%。结论首次在AL 中发现 Rox 基因突变,提示 Rox 基因的突变可能与 AL 的发病有关。

Objective To detect the expression and mutation of Rox gene in hematological malig- nancies.Methods Expression and mutation of Rox gene in bone marrow mononuclear cells(BMMNC)from 26 de novo patients with acute leukemia(AL),and in peripheral blood mononuclear cells(PBMNC)from 30 healthy volunteem,as well as 7 human leukemic cell lines were analyzed by reverse transcription-polymerase chain reaction(RT-PCR),single strand conformational polymorphism(SSCP)and DNA sequencing.Results RT-PCR showed that all samples expressed Rox gene.Among 26 de novo AL patients,3 patients were de- tected Rox mutation and the mutation rate was 11.5 %.Conclusion For the first time,we demonstrated the mutation of Rox gene in acute leukemia and suggested a possible function of the mutated gene in the patho- genesis of acute leukemia.