Laboratories of  Genome Bioinformatics and Genomic Disorders
Schulich School of Medicine, The University of Western Ontario

Single Copy Genomic Technology:
Fluorescent In Situ Hybridization (FISH) and Quantitative Microsphere Hybridization

Single copy (sc) technology uses computationally determined unique sequences in the human and other eukaryotic genomes for nucleic acid probe design and synthesis. We are currently developing diagnostic applications of sc technology. FISH is an increasingly requested procedure that uses DNA probes to distinguish chromosomal abnormalities in neoplastic and congenital disorders not evident by routine chromosome banding.  ScFISH is similar to FISH, except that probes are more precisely defined and more densely arrayed along chromosomes. Abnormalities can be detected for specific loci at much higher resolution and genomic density than commercially available DNA probes. We have used the human genome sequence to develop 0.1 - 10 kb single copy hybridization probes (Rogan et. al 2001; Newkirk et al. 2006). These probes have also been attached to fluorescent microspheres and hybridized to patient-derived genomic DNA and cDNA. The copy number of different sequences in these samples can simultaneously be determined by flow cytometry.

  To CONTACT the Principal Investigators at our NEW EMAIL Addresses: click here.
New applications of sc technology.

   Published articles about scFISH techniques and applications

Published Patents and Patent Applications:

  • US Patent #7,014,997
  • US Patent #6,828,097
  • US Patent Application 09/854,867
  • US Patent Application 10/786,970
  • US Patent Application 10/676,248
  • International Patent Application WO 01/088089
  • International Patent Application WO 2004/029283
  • International Patent Application WO 2005/094291

  • Links to related sites

  • Cytognomix ... whose goal is to make scFISH probes widely available for research and clinical applications
  • Gallery of images of genomic disorders detected with scFISH