Molecular detection of chromosome aberrations

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2290628

The invention relates to the field of cytogenetics and the application of genetic diagnostic techniques in pathology and haematology. Specifically, the invention relates to nucleic acid probes that can be used in hybridisation techniques for the detection of chromosomal aberrations and other gene rearrangements such as immunoglobulin (Ig) and T cell receptor (TCR) gene rearrangements. The probes provided by the invention are a distinct and balanced pair of probes of comparable size each preferably being from 1 to 100 kb, or smaller, and flanking a potential breakpoint in a chromosome.

L'invention se rapporte au domaine de la cytogénétique et aux techniques de diagnostic génétique appliquées à la pathologie et à l'hématologie. Plus particulièrement, l'invention porte sur des sondes d'acide nucléique pouvant être utilisées dans des techniques d'hybridation pour détecter des aberrations chromosomiques ou autres réarrangements génétiques, tels que l'immunoglobuline (Ig) ou des réarrangements génétiques du récepteur des cellules T (TcR). Les sondes de l'invention constituent une paire de sondes distincte et équilibrée de longueur comparable, chacune étant comprise, de préférence, entre 1 et 100 Kb, ou moins, et flanquant un point de cassure potentiel dans un chromosome.

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