Title: Accurate determination of copy number variations (CNVs): application to the α- and β-defensin CNVs
Authors: Nuytten, Hilde
Wlodarska, Iwona
Nackaerts, Kristiaan
Vermeire, Severine
Vermeesch, Joris
Cassiman, Jean-Jacques
Cuppens, Harry # ×
Issue Date: May-2009
Publisher: Elsevier
Series Title: Journal of Immunological Methods vol:344 issue:1 pages:35-44
Abstract: The human genome is rich in genomic regions that are repeated several times. These regions are known as CNVs (Copy-Number-Variations) and can be polymorphic. Moreover, the number of copies may play a role in the predisposition to particular diseases. It is therefore important to accurately determine the copy number of those CNVs in individuals.
We have developed a strategy, using concatemeric constructs containing different numbers of repeats as internal standards, to accurately determine the number of repeats in the α-defensin and -defensin region on chromosome 8p23 by real-time PCR. The test was validated by FISH in DNA of 13 individuals.
Comparison with previously published methods shows that this approach provides more accurate results for the determination of the exact number of repeats when they exceed 3 copies. This strategy can be easily transferred to any CNV. With this method we structurally analyzed the α-and β-defensin region in 334 Belgian individuals.
ISSN: 0022-1759
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Clinical Genetics Section (-)
Translational Research in GastroIntestinal Disorders
Forensic Biomedical Sciences
Laboratory for Genetics of Malignant Disorders
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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