Sample generation for genotyping by mass spectrometry

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2414585

The invention is drawn to a universal method for preparing DNA samples for genotyping of single nucleotide polymorphisms (SNP), deletions and insertions by mass spectrometry. The invention relates to a method for genotyping that comprises three steps: a) reducing the complexity of the genome, b) generating allele specific products, c) analyzing the products by mass spectrometry, without purifying the products obtained in step b).

L'invention concerne un procédé universel pour préparer des échantillons d'ADN pour le génotypage des polymorphismes de nucléotides simples (SNP), ainsi que des délétions et des insertions, par spectrométrie de masse. L'invention concerne un procédé de génotypage qui comprend trois stades: a) réduire la complexité du génome, b) générer des produits à allèles spécifiques, c) analyser les produits par spectrométrie de masse sans purifier les produits obtenus au stade b).

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