Analysis of copy number variation using quantitative interspecies competitive PCR

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Glaser, Beate, Morris, Huw Rees, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2008. Analysis of copy number variation using quantitative interspecies competitive PCR. Nucleic Acids Research 36 (17) , e112-e112. 10.1093/nar/gkn495

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Abstract

Over recent years small submicroscopic DNA copy-number variants (CNVs) have been highlighted as an important source of variation in the human genome, human phenotypic diversity and disease susceptibility. Consequently, there is a pressing need for the development of methods that allow the efficient, accurate and cheap measurement of genomic copy number polymorphisms in clinical cohorts. We have developed a simple competitive PCR based method to determine DNA copy number which uses the entire genome of a single chimpanzee as a competitor thus eliminating the requirement for competitive sequences to be synthesized for each assay. This results in the requirement for only a single reference sample for all assays and dramatically increases the potential for large numbers of loci to be analysed in multiplex. In this study we establish proof of concept by accurately detecting previously characterized mutations at the PARK2 locus and then demonstrating the potential of quantitative interspecies competitive PCR (qicPCR) to accurately genotype CNVs in association studies by analysing chromosome 22q11 deletions in a sample of previously characterized patients and normal controls.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Neuroscience and Mental Health Research Institute (NMHRI) Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Oxford University Press
ISSN:	0305-1048
Last Modified:	06 Nov 2022 13:43
URI:	https://orca.cardiff.ac.uk/id/eprint/27739

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