Methods and apparatus for screening and detecting multiple...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12Q 1/00 (2006.01)

Patent

CA 2494538

An assay system and methods are described where patient samples containing genomic DNA are analyzed for the presence of known genetic polymorphisms using a universal reporter strategy. In a preferred embodiment, the amplified DNA is localized at test sites in an array of sites on a microchip followed by a series of hybridization reactions that screen for the presence of a single mutation from among a number of mutations, and allow the identification of specific mutations. In addition to universal reporters, the assay may use blockers and discriminators for screening and identification of known polymorphisms.

L'invention concerne un système d'analyse et des méthodes associées, consistant à analyser des échantillons contenant de l'ADN génomique, prélevés sur un patient, en vue de détecter la présence de polymorphismes génétiques connus à l'aide d'une stratégie reposant sur des rapporteurs universels. Dans un mode de réalisation préféré, l'ADN amplifié est localisé sur des sites d'essai dans un ensemble de sites sur une puce, puis une série de réactions d'hybridation est effectuée en vue de rechercher la présence d'une mutation unique parmi un certain nombre de mutations et de permettre l'identification de mutations spécifiques. Outre des rapporteurs universels, les méthodes d'analyse peuvent faire appel à des bloqueurs et des discriminateurs pour le criblage et l'identification de polymorphismes connus.

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