抑癌基因Mxil在白血病细胞中突变的研究

Mutation analysis of the tumor suppressor gene Mxil in leukemia cells

目的：分析Mxil基因突变在白血病发病中的作用。方法：利用逆转录-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例初治急性白血病患者、30名健康对照者和2种髓系白血病细胞株（KG1、K562）Mxil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Mxil基因的表达，在11．5％（3／26）初治急性白血病患者和KG1细胞株中发现四处错义突变，发生突变的3例患者均于确诊后5个月内死亡。结论：首次在急性白血病细胞中发现Mxil基因突变，提示Mxil基因的突变可能与白血病的发病和预后有关。

Objective：To analyze the expression and mutation of Mxil gene in leukemia cells and leukemia cell line cells. Method：Expression and mutation of Mxil gene of bone marrow mononuclear cells（BMMNC） from 26 patients with de novo acute leukemia （AL）, and peripheral blood mononuclear cells （PBMNC） from 30 healthy volunteers, as well as 2 human leukemic cell lines were analyzed by reverse transcription-polymerase chain reaction （RT-PCR）, single strand conformational polymorphism （SSCP） and DNA sequencing. Result： RT-PCR showed that all samples expressed Mxil gene. Four missense mutations were detected in de novo AL patients and KG1 cells. Among 26 de novo AL patients, Mxil mutation were detected in 3 patients and the mutation rate was 11.5 0%. All these three patients died within 5 months after diagnosis. Conclusion ： We demonstrated the mutation of Mxil gene in acute leukemia and the mutation of this gene may have a role in the pathogenesis of acute leukemia.