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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays
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High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

机译：使用高密度平铺寡核苷酸阵列高分辨率映射人22号染色体中的DNA复制变化

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摘要

Deletions and amplifications of the human genomic sequence (copy number polymorphisms) are the cause of numerous diseases and a potential cause of phenotypic variation in the normal population. Comparative genomic hybridization (CGH) has been developed as a useful tool for detecting alterations in DNA copy number that involve blocks of DNA several kilobases or larger in size. We have developed high-resolution CGH (HR-CGH) to detect accurately and with relatively little bias the presence and extent of chromosomal aberrations in human DNA. Maskless array synthesis was used to construct arrays containing 385,000 oligonucleotides with isothermal probes of 45-85 bp in length; arrays tiling the β-globin locus and chromosome 22q were prepared. Arrays with a 9-bp tiling path were used to map a 622-bp heterozygous deletion in the β-globin locus. Arrays with an 85-bp tiling path were used to analyze DNA from patients with copy number changes in the pericentromeric region of chromosome 22q. Heterozygous deletions and duplications as well as partial triploidies and partial tetraploidies of portions of chromosome 22q were mapped with high resolution (typically up to 200 bp) in each patient, and the precise breakpoints of two deletions were confirmed by DNA sequencing. Additional peaks potentially corresponding to known and novel additional CNPs were also observed. Our results demonstrate that HR-CGH allows the detection of copy number changes in the human genome at an unprecedented level of resolution.
机译：人类基因组序列的缺失和扩增（拷贝数多态性）是导致多种疾病的原因，也是正常人群表型变异的潜在原因。比较基因组杂交（CGH）已被开发为检测DNA拷贝数变化的有用工具，DNA拷贝数变化涉及几千个碱基或更大大小的DNA区块。我们已经开发了高分辨率CGH（HR-CGH），可以准确检测并且具有相对较小的偏差，从而检测人DNA中染色体畸变的存在和程度。无掩模阵列合成用于构建包含385,000个寡核苷酸的阵列，其等温探针长度为45-85 bp。制备了排列成β-珠蛋白基因座和22q染色体的阵列。具有9 bp拼接路径的阵列用于定位β-珠蛋白基因座中622 bp的杂合缺失。使用具有85 bp拼接路径的阵列分析来自患者的DNA，这些患者的DNA拷贝数在22q染色体的着丝粒区域中发生了变化。在每个患者中以高分辨率（通常高达200 bp）定位22q号染色体部分的杂合缺失和重复以及部分三倍体和部分四倍体，并通过DNA测序确认了两个缺失的精确断点。还观察到可能对应于已知和新颖的另外的CNP的另外的峰。我们的结果表明，HR-CGH可以以前所未有的分辨率检测人类基因组中的拷贝数变化。

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