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目的探讨儿童急性白血病(AL)骨髓或外周血单个核细胞中Notch1和Jagged1基因表达及其在AL发病中的可能作用。方法收集2009年2月至2011年7月初诊的47例AL患儿和20例正常或非恶性血液病儿童(对照组)骨髓或外周血单个核细胞,采用二步法半定量逆转录聚合酶链反应(RT-PCR)方法检测骨髓或外周血中Notch1和Jagged1基因表达情况。47例AL患儿中,急性淋巴细胞白血病(ALL)32例,其中B-ALL 26例,T-ALL 6例;急性髓细胞白血病(AML)15例。结果 ALL组及AML组Notch1基因阳性率高于对照组,差异均有统计学意义(P<0.05)。T-ALL患儿Notch1基因表达水平高于B-ALL患儿,差异有统计学意义(P<0.01)。ALL组及AML组Jagged1基因阳性率与对照组比较差异无统计学意义,但ALL组及AML组Jagged1表达水平均高于对照组,差异有统计学意义(P<0.05)。结论 Notch1在儿童不同类型ALL中的表达有明显差异,T-ALL患儿中的Notch1表达明显高于B-ALL患儿;在儿童AL细胞中,普遍存在Notch1信号的活化;Notch1在AML儿童中异常表达,提示Notch1在AML儿童中也起着重要作用。Jagged1在ALL及AML儿童中异常表达,但需要收集更多资料论证。
Objective To investigate the expression of Notch1 and Jagged1 in bone marrow or peripheral blood mononuclear cells of children with acute leukemia (AL) and its possible role in the pathogenesis of AL. Methods Bone marrow or peripheral blood mononuclear cells from 47 children with AL and 20 children with normal or non-hematologic malignancies (control group) newly diagnosed from February 2009 to July 2011 were collected. Two-step semi-quantitative RT-PCR The expression of Notch1 and Jagged1 gene in bone marrow or peripheral blood was detected by reverse transcription-polymerase chain reaction (RT-PCR). In 47 children with AL, 32 cases were ALL, including 26 cases of B-ALL, 6 cases of T-ALL and 15 cases of acute myeloid leukemia (AML). Results The positive rate of Notch1 gene in ALL group and AML group was significantly higher than that in control group (P <0.05). The expression of Notch1 gene in children with T-ALL was higher than that in children with B-ALL, the difference was statistically significant (P <0.01). The positive rate of Jagged1 in ALL group and AML group was not significantly different from that in control group, but the expression of Jagged1 in ALL group and AML group was significantly higher than that in control group (P <0.05). Conclusion The expression of Notch1 in children with different types of ALL is obviously different. The expression of Notch1 in children with T-ALL is obviously higher than that in children with B-ALL. In children with AL, the Notch1 signal is prevalent. In Notch1 Abnormal expression, suggesting that Notch1 also plays an important role in children with AML. Jagged1 is abnormally expressed in ALL and AML children, but requires more data to be collected.