| 急性髓系白血病患者转录因子CCAAT/增强子结合蛋白α基因突变研究 |
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| 引用本文： | 赵晋梅,王宏伟,徐智芳,朱镭,白波,葛晓燕. 急性髓系白血病患者转录因子CCAAT/增强子结合蛋白α基因突变研究[J]. 中华血液学杂志, 2005, 26(5): 299-302 |
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| 作者姓名： | 赵晋梅 王宏伟 徐智芳 朱镭 白波 葛晓燕 |
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| 作者单位： | 030001,太原,山西医科大学第二医院血液病研究所 |
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| 摘 要： | 目的 探讨髓系转录因子CCAAT／增强子结合蛋α(C／EBPα)基因突变与急性髓系白血病(AML)发生的关系。方法 采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析联合测序的方法检测48例AML患骨髓标本，11名正常体检的外周血标本C／EBPα基因突变情况。结果 经PCR-SSCP检测，48例AML患巾有5例(10.4％)存在突变经测序证实有4种重复，1种缺失，均为新的突变类型。结论 C／EBPα基因在少数AML患中存在不同类型的突变，其变异可能与某些AML的发生有关。
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| 关 键 词： | 急性髓系白血病 转录因子 CCAAT／增强子结合蛋白α 基因突变 |
| 修稿时间： | 2004-06-21 |
Detection of CCAAT/enhancer binding protein α gene mutations in acute myeloid leukemia |
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| ZHAO Jin-mei,WANG Hong-wei,XU Zhi-fang,ZHU Lei,BAI Bo,GE Xiao-yan. Detection of CCAAT/enhancer binding protein α gene mutations in acute myeloid leukemia[J]. Chinese Journal of Hematology, 2005, 26(5): 299-302 |
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| Authors: | ZHAO Jin-mei WANG Hong-wei XU Zhi-fang ZHU Lei BAI Bo GE Xiao-yan |
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| Affiliation: | Institute of Hematology, 2nd Hospital of Shanxi Medical University, Taiyuan 030001, China. |
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| Abstract: | OBJECTIVE: To explore the relationship between CCAAT/enhancer binding protein alpha (C/EBPalpha) gene mutations and the development of acute myeloid leukemia (AML). METHODS: The whole coding region of C/EBPalpha gene were screened in 48 cases of AML and 11 normal subjects by PCR-single strand conformation polymorphism (PCR-SSCP) and sequencing. RESULTS: C/EBPalpha mutations were detected in 5 of 48 AML patients. Four duplications and 1 deletion were confirmed by DNA sequencing. All of those are newly identified mutations. CONCLUSIONS: Different mutation types of C/EBPalpha gene exist in a small number of patients with AML and might be related to the pathogenesis of some leukemias. |
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