Format

Send to:

Choose Destination
See comment in PubMed Commons below
Nucleic Acids Res. 2000 Jan 15;28(2):605-9.

Measurement of locus copy number by hybridisation with amplifiable probes.

Author information

  • 1Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK, john.armour@nott.ac.uk

Abstract

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 submicro-scopic 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.

PMID:
10606661
[PubMed - indexed for MEDLINE]
PMCID:
PMC102499
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk