Contiguous genomic sequence scanning

Details Contiguous genomic sequence scanning Contiguous genomic sequence scanning

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2282753

Disclosed are methods for the detection of loss of genomic integrity characteristic of genomic instability. The methods are especially useful for detection of deletions of genomic DNA that occur in early stages of Cancer, especially colorectal cancer. Methods of the invention involve the detection in a biological sample of a nucleic acid fragment which includes both 3' and 5' DNA sequence which normally flank a region where a deletion is suspected. The assay is designed as disclosed herein such that there is only a small or negligible likelihood that the fragment will be present unless a deletion has occurred.

La présente invention a pour objet des procédés permettant de détecter une perte d'intégrité génomique caractéristique d'une instabilité génomique. Ces procédés conviennent particulièrement à la détection des délétions d'ADN génomique qui se produisent aux premiers stades du cancer, notamment du cancer colorectal. Lesdits procédés impliquent la détection, dans un échantillon biologique, d'un fragment d'acide nucléique qui comprend à la fois les séquences 3' et 5' de l'ADN, qui flanquent normalement une région dans laquelle on soupçonne une délétion. Selon cette invention, l'épreuve est conçue de telle manière que les probabilités de présence dudit fragment en l'absence de délétion sont faibles ou négligeables.

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