A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Timothy J. Ley; Patrick J. Minx; Matthew J. Walter; Rhonda E. Ries; Hui Sun; Michael McLellan; John F. DiPersio; Daniel C. Link; Michael H. Tomasson; Timothy A. Graubert; Howard McLeod; Hanna Khoury; Mark Watson; William Shannon; Kathryn Trinkaus

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A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

机译：高通量，基于序列的原发性人类急性髓性白血病细胞基因组突变分析的初步研究

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In this pilot study, we gsed primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing ≈ 7 million base pairs of DNA from 140 AML samples and 48 controls. We identified six previously described, and seven previously unde-scribed sequence changes that may be relevant for AML patho-genesis. Because the sequencing templates were generated from primary AML cells, the technique favors the detection of mutations from the most dominant clones within the tumor cell mixture. This strategy represents a viable approach for the detection of potentially relevant, nonrandom mutations in primary human cancer cell genomes.

机译：在这项初步研究中，我们将原代人急性髓性白血病（AML）细胞基因组作为外显子PCR扩增的模板，然后进行高通量重测序，分析了140个AML样品和48个对照中约700万碱基对的DNA。我们鉴定了六个先前描述的序列，以及七个先前未描述的序列变化，这些变化可能与AML发病机理有关。由于测序模板是从原代AML细胞生成的，因此该技术有利于从肿瘤细胞混合物中最主要的克隆中检测突变。该策略代表了一种可行的方法，用于检测原发性人类癌细胞基因组中潜在相关的非随机突变。

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《Proceedings of the National Academy of Sciences of the United States of America》 |2003年第24期|p.14275-14280|共6页
作者
Timothy J. Ley; Patrick J. Minx; Matthew J. Walter; Rhonda E. Ries; Hui Sun; Michael McLellan; John F. DiPersio; Daniel C. Link; Michael H. Tomasson; Timothy A. Graubert; Howard McLeod; Hanna Khoury; Mark Watson; William Shannon; Kathryn Trinkaus;
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作者单位

Washington University, Division of Oncology, Campus Box 8007, 660 South Euclid Avenue, St. Louis, MO 63110;

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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种 eng
中图分类自然科学总论;
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2. Mutations of the Wilms tumor 1 gene (WT1) in older patients with primary cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. [J] . Becker H, Marcucci G, Maharry K, Blood: The Journal of the American Society of Hematology . 2010,第5期

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6. A pilot study of high-throughput sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes [O] . Timothy J. Ley, Patrick J. Minx, Matthew J. Walter, 2003

机译：高通量基于序列的原发性人类急性髓性白血病细胞基因组突变分析的初步研究
7. A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes [O] . Ley, Timothy J., Minx, Patrick J., Walter, Matthew J., 2003

机译：高通量，基于序列的原发性人类急性髓性白血病细胞基因组突变分析的初步研究

A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

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