Method of detecting cystic fibrosis associated mutations

Details Method of detecting cystic fibrosis associated mutations Method of detecting cystic fibrosis associated mutations

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C12P 19/34 (2006.01) C40B 30/00 (2006.01)

Patent

CA 2568499

The present invention describes a method for the simultaneous identification of two or more single base changes, insertions, deletions or translocations in a plurality of target nucleotide sequences that are markers associated with cystic fibrosis. Multiplex detection is accomplished using multiplexed tagged allele specific primer extension (ASPE) and hybridization of such extended primers to a probe, preferably an addressable anti-tagged support.

La présente invention décrit un procédé d~identification simultanée de deux modifications, insertions, suppressions ou translocations, ou plus, de bases simples dans une pluralité de séquences nucléotidiques cibles qui sont des marqueurs associés à la fibrose cystique. La détection multiplex est effectuée en utilisant une extension d~amorces allèle-spécifiques (ASPE) marquée multiplexée et l~hybridation de ces amorces allongées en une sonde, de préférence un support anti-marqué adressable.

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