Analysis of copy number variation using quantitative interspecies competitive PCR.

Nigel M. Williams, Hywel Williams, Elisa Majounie, Nadine Norton, Beate Glaser, Huw R. Morris, Michael J. Owen, Michael C. O'Donovan

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish (US)
JournalNucleic Acids Research
Volume36
Issue number17
DOIs
StatePublished - Oct 2008
Externally publishedYes

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DNA Copy Number Variations
Polymerase Chain Reaction
Chromosome Deletion
Pan troglodytes
Disease Susceptibility
Human Genome
Genotype
Genome
Mutation
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Williams, N. M., Williams, H., Majounie, E., Norton, N., Glaser, B., Morris, H. R., ... O'Donovan, M. C. (2008). Analysis of copy number variation using quantitative interspecies competitive PCR. Nucleic Acids Research, 36(17). https://doi.org/10.1093/nar/gkn495

Analysis of copy number variation using quantitative interspecies competitive PCR. / Williams, Nigel M.; Williams, Hywel; Majounie, Elisa; Norton, Nadine; Glaser, Beate; Morris, Huw R.; Owen, Michael J.; O'Donovan, Michael C.

In: Nucleic Acids Research, Vol. 36, No. 17, 10.2008.

Research output: Contribution to journalArticle

Williams, NM, Williams, H, Majounie, E, Norton, N, Glaser, B, Morris, HR, Owen, MJ & O'Donovan, MC 2008, 'Analysis of copy number variation using quantitative interspecies competitive PCR.', Nucleic Acids Research, vol. 36, no. 17. https://doi.org/10.1093/nar/gkn495
Williams, Nigel M. ; Williams, Hywel ; Majounie, Elisa ; Norton, Nadine ; Glaser, Beate ; Morris, Huw R. ; Owen, Michael J. ; O'Donovan, Michael C. / Analysis of copy number variation using quantitative interspecies competitive PCR. In: Nucleic Acids Research. 2008 ; Vol. 36, No. 17.
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