Signalgene Inc.

Centre De Recherche De L'hopital Sainte-justine

Daniel Sinnett

Damian Labuda

Damian LaBuda

Chantal Richer

Maja Krajinovic

The present invention relates to a method of detecting genetic variation in individuals by PCR amplification of the locus of interest, transferring the resulting PCR products to a membrane filter, hybridizing with allele-specific-oligonucleotides (ASOs), and visualizing the results. Such a method is in the field of diagnostics, pharmacogenetics, cancer therapeutics, and drug metabolism. In particular, the present invention relates to the detection of genetic polymorphisms in gene encoding xenobiotics metabolizing enzymes CYP1A1, CYP2D6, CYP3A4, and NAT2.

Detection of CYP1A1, CYP3A4, CYP2D6 and NAT2 variants by PCR-allele-specific oligonucleotide (ASO) assay

The present invention relates to a method of diagnosis or prognosis of tumor cells in a patient displaying a mutator phenotype in the tumor which comprises the steps of: a) obtaining a genomic DNA sample of the tumor; b) obtaining a genomic DNA sample of a tumor-free tissue of the patient; subjecting the DNA samples of steps a) and b) to amplification using primers which are flanking repeat pattern affected by a mutator phenotype or cold inter-Alu PCR followed by hybridization with a probe corresponding to an instability prone locus; d) subjecting the amplified fragments of step c) to electrophoretic fractionation on a polyacrylamide gel to determine the presence of a variation in band profile between tumor and tumor-free DNA indicating a genomic instability associated with a mutator phenotype; and e) employing means for comparing the allelic status of at least one instability prone locus in the DNA samples of step c).

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Boucherville, Canada

Daniel Sinnett