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[共济失调毛细血管扩张症突变基因与慢性淋巴细胞白血病——综述]

[Gene atm and chronic lymphocytic leukemia - review].

作者信息

Zhu Dan-Xia, Xu Wei, Li Jian-Yong

机构信息

Department of Hematology, The First Hospital, Nanjing Medical University, Jiangsu Province, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2008 Oct;16(5):1242-6.

Abstract

The ataxia telangiectasia mutated gene (atm) is a tumor-suppressing gene, locates in the human chromosome 11q22-23. This gene mainly participates in recognition and repairment of DNA damage and plays a critical role in signal transduction pathway induced by double strand breaks (DSB). In chronic lymphocytic leukemia (CLL) there is high frequency of loss of heterozygosity (LOH) and mutation of atm gene, which related to pathopoiesis and progression of CLL. This article reviewed the progress of recent studies on the characteristics and mechanism of atm gene, as well as its role in the pathogenesis of CLL.

摘要

共济失调毛细血管扩张症突变基因(atm)是一种肿瘤抑制基因,位于人类染色体11q22 - 23。该基因主要参与DNA损伤的识别与修复,在双链断裂(DSB)诱导的信号转导通路中起关键作用。在慢性淋巴细胞白血病(CLL)中,atm基因杂合性缺失(LOH)和突变的频率较高,这与CLL的发病机制和进展相关。本文综述了近年来关于atm基因的特征、机制及其在CLL发病机制中的作用的研究进展。

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