Methods, compositions, and kits for detecting allelic variants

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12N 15/11 (2006.01)

Patent

CA 2747026

In some embodiments, the present inventions relates generally to compositions, methods and kits for use in discriminating sequence variation between different alleles. More specifically, in some embodiments, the present invention provides for compositions, methods and kits for quantitating rare (e.g., mutant) allelic variants, such as SNPs, or nucleotide (NT) insertions or deletions, in samples comprising abundant (e.g., wild type) allelic variants with high specificity and selectivity. In particular, in some embodiments, the invention relates to a highly selective method for mutation detection referred to as competitive allele-specific TaqMan PCR ("cast-PCR").

Dans certains modes de réalisation, la présente invention concerne, de façon générale, des compositions, des procédés et des nécessaires permettant la détection d'une variation de séquence entre différents allèles. Plus précisément, dans certains modes de réalisation, la présente invention concerne des compositions, des procédés et des nécessaires permettant une quantification hautement spécifique et sélective de variantes alléliques rares (par exemple mutantes), comme les SNP, ou, encore, d'insertions ou de délétions de nucléotides (NT), dans des échantillons comprenant de nombreuses variantes alléliques (par exemple de phénotype sauvage). Dans certains modes de réalisation en particulier, l'invention concerne un procédé hautement sélectif de détection de mutations connu sous le nom de "cast-PCR" (de l'anglais competitive allele-specific TaqMan PCR).

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