Germ-line DNA copy number variation frequencies in a large North American population

被引：112

作者：

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 ^{[1
]}

机构：

[1] Samuel Lunenfeld Res Inst, Toronto, ON, Canada

[2] Mt Sinai Hosp, Toronto, ON M5G 1X5, Canada

[3] Hosp Sick Children, Genet Program & Genom Biol, Toronto, ON, Canada

[4] Univ Toronto, Hosp Sick Children, Ctr Appl Genom, Dept Mol & Med Genet, Toronto, ON, Canada

[5] Ontario Canc Inst Res, Toronto, ON, Canada

[6] Fred Litwin Ctr Canc Genet, Samuel Lunenfeld Res Inst, Sam Minuk Canc Genet & Biomarker Lab, Toronto, ON, Canada

[7] Mt Sinai Hosp, Dr Zane Cohen Digest Dis Clin Res Ctr, Toronto, ON, Canada

[8] Univ Toronto, Terrence Donnelly Ctr Cellular & Biomol Res, Banting & Best Dept Med Res, Toronto, ON, Canada

[9] McGill Univ, Genom Quebec Innovat Ctr, Montreal, PQ, Canada

[10] Canc Carw Ontario, Toronto, ON, Canada

来源：

HUMAN GENETICS | 2007年 / 122卷 / 3-4期

关键词：

D O I：

10.1007/s00439-007-0404-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：345 / 353

页数：9

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