A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes
A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes
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DOI：
10.1073/pnas.2335924100
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发表时间：
2003-11-25
影响因子：
11.1
通讯作者：
Wilson, RK
中科院分区：
文献类型：
--
作者：
Ley, TJ;Minx, PJ;Wilson, RK
在这项试点研究中，我们使用原代人类急性髓系白血病 (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，分析来自 140 个 AML 样本和 48 个对照的约 700 万个碱基对的 DNA。我们确定了 6 个先前描述的序列变化和 7 个先前未描述的可能与 AML 发病机制相关的序列变化。由于测序模板是从原代 AML 细胞生成的，因此该技术有利于检测肿瘤细胞混合物中最主要克隆的突变。该策略代表了一种检测原代人类癌细胞基因组中潜在相关的非随机突变的可行方法。
in this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing approximate to7 million base pairs of DNA from 140 AML samples and 48 controls. We identified six previously described, and seven previously undescribed sequence changes that may be relevant for AML pathogenesis. 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.