急性髓系白血病cebpa基因突变研究  

Analysis of cebpa Mutation in Acute Myeloid Leukemia

作　　者：张艳[1,2] 张苏江[1,2] 仇红霞[1,2] 乔纯[1,2] 孙海敏[1,2] 李建勇[1,2] 

机构地区：[1]南京医科大学第一附属医院 [2]江苏省人民医院血液科,江苏南京210029

出　　处：《中国实验血液学杂志》2010年第4期859-862,共4页Journal of Experimental Hematology

摘　　要：本研究旨在探讨急性髓系白血病(AML)患者中cebpa基因突变的发生率及突变情况。选取22例初发或复发的正常核型AML患者,其中M12例,M215例,M52例,M63例例,女性8例,中位年龄48岁(13-71岁)。以基因组DNA为模板,分两段扩增cebpa基因,PCR产物通过直接测序或克隆测序法检测cebpa突变情况。结果表明:22例AML患者中有4例检出cebpa基因突变,突变率为18.2%(4/22),均为M2,其中2例为初发AML患者,2例为复发AML患者。突变主要为N端的无义突变和C端的框内突变。结论:采用PCR扩增联合测序检测cebpa基因突变,主要见于M2型,其预后意义有待进一步研究。In order to evaluate the incidence of CCAAT/enhancer binding protein alpha （cebpa） gene mutation in patients with acute myeloid leukemia （AML）, 22 AML patients with normal karyotype （NK-AML） were enrolled in this study, including de novo AML and relapsed AML. The cebpa gene was amplified by 2 stages using genomic DNA as template, the cebpa gene mutation amplified product was detected by direct sequencing or clone sequencing. The results showed that the cebpa mutations including deletion and insertion were found in 4 out of 22 AML patients （ 18.2% ） and all of these 4 patients were M2. Two patients had N-terminal nonsense mutation and the other two had Cterminal in-frame mutation. It is concluded that PCR combined with direct sequencing and clone sequencing can be used to detect cebpa mutations, cebpa mutations are mainly identified in M2 subtype of NK-AML patients, its significance for prognosis needs to further investigate.

关 键 词：cebpa基因突变 急性髓系白血病 正常核型 

分 类 号：R733.71[医药卫生—肿瘤]