Dna diagnostics based on mass spectrometry

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12Q 1/70 (2006.01) G01N 35/10 (2006.01)

Patent

CA 2214359

The invention provides fast and highly accurate mass spectrometer based processes for detecting a particular nucleic acid sequence in a biological sample. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

La présente invention concerne des processus rapides et très précis mettant en oeuvre un spectromètre de masse pour détecter une séquence particulière d'acide nucléique dans un échantillon biologique. Suivant la séquence à détecter, il est possible d'utiliser ces processus par exemple pour diagnostiquer une maladie génétique ou une anomalie chromosomique, une prédisposition à une maladie ou à un état, une infection par un organisme pathogène, ou pour la détermination d'identité ou d'hérédité.

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