急性髓系白血病和骨髓增生异常综合征患者核仁磷酸蛋白（NPM）基因突变的研究
[Study of nucleophosmin (NPM) gene mutation in patients with acute myeloid leukemia and myelodysplastic syndromes].
作者信息
Zhang Yue, Zhang Mei-Rong, Yang Lin, Xiao Zhi-Jian
机构信息
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2006 Jul;27(7):470-3.
OBJECTIVE
To investigate nucleophosmin (NPM) gene mutations in patients with de novo acute myeloid leukemia (AML) with normal cytogenetics and primary myelodysplastic syndromes (MDS).
METHODS
Genomic DNA corresponding to exon 12 of NPM gene was amplified by polymerase chain reaction (PCR) in 40 AML patients (28 case untreated and 12 in first remission) and 33 MDS patients. The PCR products were purified and screened by direct sequencing, the mutation PCR products were cloned into pUCm-T vector and then transfected into E. coil DH5alpha. At least 5 recombinant colonies were selected, and plasmid DNA were prepared and sequenced.
RESULTS
NPM mutations were found in 6 patients (4 newly diagnosed AML and 2 MDS): 4 were type A,1 type B, and 1 novel sequence variant ( named as type R).
CONCLUSION
A new type of NPM mutation was found, and NPM mutations in MDS patients were demonstrated for the first time. The results provides new hints for NPM gene mutations in the pathogenesis of AML and MDS.
目的
研究初发的细胞遗传学正常的急性髓系白血病（AML）患者及原发性骨髓增生异常综合征（MDS）患者中的核磷蛋白（NPM）基因突变情况。
方法
采用聚合酶链反应（PCR）扩增40例AML患者（28例初治患者和12例首次缓解期患者）及33例MDS患者的NPM基因第12外显子对应的基因组DNA。PCR产物经纯化后进行直接测序筛选，将突变的PCR产物克隆至pUCm-T载体，然后转染至大肠杆菌DH5α。至少挑选5个重组菌落，提取质粒DNA并测序。
结果
在6例患者中发现NPM突变（4例新诊断的AML患者和2例MDS患者）：4例为A型，1例为B型，1例为新的序列变异型（命名为R型）。
结论
发现了一种新型的NPM突变，首次证实了MDS患者中存在NPM突变。该结果为AML和MDS发病机制中的NPM基因突变提供了新线索。
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