Zogopoulos George, Ha Kevin C H, Naqib Faisal, Moore Sara, Kim Hyeja, Montpetit Alexandre, Robidoux Frederick, Laflamme Philippe, Cotterchio Michelle, Greenwood Celia, Scherer Stephen W, Zanke Brent, Hudson Thomas J, Bader Gary D, Gallinger Steven
Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada.
Hum Genet. 2007 Nov;122(3-4):345-53. doi: 10.1007/s00439-007-0404-5. Epub 2007 Jul 19.
Genomic copy number variation (CNV) is a recently identified form of global genetic variation in the human genome. The Affymetrix GeneChip 100 and 500 K SNP genotyping platforms were used to perform a large-scale population-based study of CNV frequency. We constructed a genomic map of 578 CNV regions, covering approximately 220 Mb (7.3%) of the human genome, identifying 183 previously unknown intervals. Copy number changes were observed to occur infrequently (<1%) in the majority (>93%) of these genomic regions, but encompass hundreds of genes and disease loci. This North American population-based map will be a useful resource for future genetic studies.
基因组拷贝数变异（CNV）是人类基因组中最近发现的一种全基因组遗传变异形式。使用Affymetrix GeneChip 100和500 K单核苷酸多态性（SNP）基因分型平台对CNV频率进行大规模人群研究。我们构建了一个包含578个CNV区域的基因组图谱，覆盖了约220兆碱基（占人类基因组的7.3%），识别出183个以前未知的区间。在这些基因组区域的大多数（>93%）中，拷贝数变化很少发生（<1%），但涉及数百个基因和疾病位点。这张基于北美人群的图谱将为未来的遗传学研究提供有用的资源。
