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PMID: 17638019 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 122 ·No. 3-4 ·2007-11-00 ·Pages 345-53

Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H, Montpetit A, Robidoux F, Laflamme P, Cotterchio M, Greenwood C, Scherer SW, Zanke B, Hudson TJ, Bader GD, Gallinger S

Abstract

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.

MeSH Terms
Aged Chromosome Mapping DNA/genetics Female Gene Dosage Gene Frequency Genetic Variation Genetics, Population Genome, Human Germ Cells/metabolism Humans Male Middle Aged Oligonucleotide Array Sequence Analysis Ontario Polymerase Chain Reaction Polymorphism, Single Nucleotide Registries
Chemicals
DNA
Authors & Affiliations
15 authors, click to expand affiliations / ORCID
Zogopoulos George
Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada.
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
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/s00439-007-0404-5
Published
2007-11-00
Epub
2007-00-19
Pages
345-53
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NCI NIH HHS · CA-96-011 · United States
External Links
PubMed source DOI: 10.1007/s00439-007-0404-5 View journal details
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