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.
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