Laboratories of Genome Bioinformatics and Genomic Disorders
Schulich School of Medicine and Dentistry, 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 for FISH, microspheres, and microarrays. These probes have been hybridized to patient-derived genomic DNA and cDNA. Copy number variation in known single copy sequences in these samples can simultaneously be determined by flow cytometry, microarray analysis, or next generation sequencing.

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Other applications of sc technology

   Articles about scFISH techniques and applications
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Links to related sites

  • Cytognomix Inc ... making single copy technology available for research and clinical applications
  • Gallery of images of genomic disorders detected with scFISH