C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C12P 19/34 (2006.01)
Patent
CA 2556981
The present invention is directed to a method for detecting and quantifying rare mutations in a nucleic acid sample. The nucleic acid molecules under investigation can be either DNA or RNA. The rare mutation can be any type of functional or non-functional nucleic acid change or mutation, such as deletion, insertion, translocation, inversion, one or more base substitution or polymorphism. Therefore, the methods of the present invention are useful in detection of rare mutations in, for example, diagnostic, prognostic and follow- up applications, when the targets are rare known nucleic acid variants mixed in with the wildtype or the more common nucleic acid variant(s).
La présente invention concerne un procédé visant à détecter et quantifier les mutations rares dans un échantillon d'acide nucléique. Les molécules d'acide nucléique à examiner peuvent être soit de l'ADN, soit de l'ARN. La mutation rare peut être tout type de changement ou de mutation fonctionnel ou non fonctionnel de l'acide nucléique, et notamment la suppression, l'insertion, la translocation, l'inversion, ou au moins une substitution ou un polymorphisme de base. Ainsi, les procédés de l'invention conviennent pour la détection de mutations rares aux fins notamment de diagnostic, de pronostic et d'applications de suivi, lorsque les cibles sont des variantes rares d'acide nucléique connu mélangées avec le type sauvage ou les variantes les plus communes d'acide nucléique.
Cantor Charles R.
Ding Chunming
Norton Rose Or S.e.n.c.r.l. S.r.l./llp
The Trustees Of Boston University
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