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一种用于评估人类白血病基因异柠檬酸脱氢酶1(IDH1)功能及其突变的斑马鱼模型。

A Zebrafish Model for Evaluating the Function of Human Leukemic Gene IDH1 and Its Mutation.

作者信息

Ma Alvin C H, Shi Xiangguo, He Bai-Liang, Guo Yuhan, Leung Anskar Y H

机构信息

Division of Haematology, Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong.

出版信息

Methods Mol Biol. 2017;1633:193-218. doi: 10.1007/978-1-4939-7142-8_13.

DOI:10.1007/978-1-4939-7142-8_13
PMID:28735489
Abstract

The recent advent of next-generation sequencing (NGS) has greatly accelerated identification of gene mutations in myeloid malignancies at unprecedented speed that will soon outpace their functional validation by conventional laboratory techniques and animal models. A high-throughput whole-organism model is useful for the functional validation of new mutations. We recently reported the use of zebrafish to evaluate the hematopoietic function of isocitrate dehydrogenase 1 (IDH1) and the effects of expressing human IDH1-R132H that is frequently identified in human acute myeloid leukemia (AML), in myelopoiesis, with a view to develop zebrafish as a model of AML. Here, we use IDH1 as an example to describe a comprehensive approach to evaluate hematopoietic gene function and the effects of mutations using zebrafish as a model.

摘要

新一代测序(NGS)技术的近期出现,以前所未有的速度极大地加速了髓系恶性肿瘤中基因突变的鉴定,而这一速度很快就会超过通过传统实验室技术和动物模型对这些突变进行功能验证的速度。一种高通量的全生物体模型对于新突变的功能验证很有用。我们最近报道了利用斑马鱼来评估异柠檬酸脱氢酶1(IDH1)的造血功能,以及在骨髓生成过程中表达在人类急性髓系白血病(AML)中经常发现的人类IDH1-R132H的影响,以期将斑马鱼开发成AML模型。在此,我们以IDH1为例,描述一种使用斑马鱼作为模型来评估造血基因功能和突变影响的综合方法。

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A Zebrafish Model for Evaluating the Function of Human Leukemic Gene IDH1 and Its Mutation.一种用于评估人类白血病基因异柠檬酸脱氢酶1(IDH1)功能及其突变的斑马鱼模型。
Methods Mol Biol. 2017;1633:193-218. doi: 10.1007/978-1-4939-7142-8_13.
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Functions of idh1 and its mutation in the regulation of developmental hematopoiesis in zebrafish.idh1 的功能及其突变在斑马鱼发育性造血中的调节作用。
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Rapid and reliable detection of IDH1 R132 mutations in acute myeloid leukemia using high-resolution melting curve analysis.采用高分辨率熔解曲线分析快速可靠地检测急性髓系白血病中的 IDH1 R132 突变。
Clin Biochem. 2011 Jul;44(10-11):779-83. doi: 10.1016/j.clinbiochem.2011.04.014. Epub 2011 Apr 22.
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IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics.IDH1(R132H) 突变增加了小鼠造血祖细胞并改变了表观遗传学。
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Detection of IDH1 R132H mutation in acute myeloid leukemia by mutation-specific immunohistochemistry.采用特异性突变免疫组化法检测急性髓系白血病中的异柠檬酸脱氢酶1(IDH1)R132H突变
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[Detection of isocitrate dehydrogenase 1 gene mutation in 205 AML patients and its clinical significance].205例急性髓系白血病患者异柠檬酸脱氢酶1基因突变检测及其临床意义
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Dec;20(6):1307-11.

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