白血病p16基因失活的研究

Inactivation of p16 gene in leukemia

为探讨白血病p16基因失活的发生率及其与疾病预后的关系,对48例初发或复发的白血病进行了p16基因失活研究。首先应用多重聚合酶链反应(MPCR)方法扩增p16基因纯合子缺失,然后用限制性内切酶-PCR方法检测p16基因甲基化。研究结果表明,48例患者中有p16基因失活者10例(占20.4％),其中p16纯合子缺失者5例(2例伴有9p丢失),p16基因甲基化者5例。有p16基因失活者,病情进展迅速,治疗效果差,患者在短期内死亡。结论提示:p16基因失活在部分白血病的发生、发展中起重要作用;有p16基因失活者预后较差;p16基因失活的检测对于判断预后具有重要意义。

To determine the frequency of p16 gene inactivation in leukemia cells, and evaluate its value in the prediction of their clinical outcome, bone marrow or peripheral blood samples from 48 patients were examined by multiplex polymerase chain reaction( MPCR) to detect p16 gene homozygous deletion, and by restriction enzyme PCR to detect p16 gene methylation. Results showed that p16 gene inactivation was found in 10 of the 48 patients (20.4%), five patients showed p16 homozygous deletion, and five patients showed p16 methylation, p16 gene inactivation correlated with adverse prognosis, the patients with p16 inactivation had poor response to chemotherapy, and had significantly shorter survival time than the patients whose p16 gene was preserved(P< 0.001). It was concluded that the inactivation of p16 gene could paly a key role in the pathogenesis and the progression of some leukemia, and the detection of p16 gene may be a reliable prognostic factor that predicts shortened survival time.