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Nucleic Acids Research, 2000, Vol. 28, No. 2 605-609
© 2000 Oxford University Press

Measurement of locus copy number by hybridisation with amplifiable probes

John A. L. Armour*, Carolina Sismani1, Philippos C. Patsalis1 and Gareth Cross2

Institute of Genetics, University of Nottingham, Queen’s Medical Centre, Nottingham NG7 2UH, UK, 1The Cyprus Institute of Neurology and Genetics, PO Box 3462, 1683 Nicosia, Cyprus and 2Centre for Medical Genetics, City Hospital, Hucknall Road, Nottingham NG5 1PB, UK

Despite its fundamental importance in genome analysis, it is only recently that systematic approaches have been developed to assess copy number at specific genetic loci, or to examine genomic DNA for submicro­scopic deletions of unknown location. In this report we show that short probes can be recovered and amplified quantitatively following hybridisation to genomic DNA. This simple observation forms the basis of a new approach to determining locus copy number in complex genomes. The power and specificity of multiplex amplifiable probe hybridisation is demonstrated by the simultaneous assessment of copy number at a set of 40 human loci, including detection of deletions causing Duchenne muscular dystrophy and Prader–Willi/Angelman syndromes. Assembly of other probe sets will allow novel, technically simple approaches to a wide variety of genetic analyses, including the potential for extension to high resolution genome-wide screens for deletions and amplifications.

* To whom correspondence should be addressed. Tel: +44 115 9249924; Fax: +44 115 9709906; Email: john.armour@nott.ac.uk


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