Methods and compositions relating to multiplex genomic gain...

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2707958

Compositions and methods are provided for detecting genomic DNA gain and loss. Embodiments of inventive assays include using a substrate-attached composite nucleic acid probe which specifically hybridizes to two or more genomic loci in a genomic region of a reference genome. The genomic region is characterized by a first terminus and a second terminus and has an intermediate region disposed between the first terminus and second terminus of at least 400 kilobases. The composite nucleic acid probe includes nucleic acid sequences which specifically hybridize to substantially an entire first genomic locus including the first terminus and to substantially an entire second genomic locus including the second terminus. Methods and compositions are provided which include assessment of two or more genomic DNA references.

L'invention concerne des compositions et des procédés pour détecter un gain et une perte d'ADN génomiques. Des modes de réalisation d'analyses de la présente invention comprennent l'utilisation d'une sonde d'acide nucléique composite fixée sur un substrat qui hybride spécifiquement en au moins deux lieux génomiques dans une zone génomique d'un génome de référence. La zone génomique est caractérisée par une première terminaison et une seconde terminaison, et présente une zone intermédiaire disposée entre la première terminaison et la seconde terminaison, d'au moins 400 kilobases. La sonde d'acide nucléique composite comprend des séquences d'acides nucléiques qui s'hybrident spécifiquement sensiblement à un premier lieu génomique entier comprenant la première terminaison, et sensiblement à un second lieu génomique entier comprenant la seconde terminaison. L'invention concerne également des procédés et des compositions qui comprennent l'évaluation d'au moins deux références d'ADN génomiques.

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