Complexity management of genomic dna by locus specific...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2489733

The present invention provides for novel methods and kits for reducing the complexity of a nucleic acid sample to interrogate a collection of target sequences. In one embodiment complexity reduction can be accomplished by extension of a locus specific capture probe followed by amplification of the extended capture probe using common primers. The locus specific capture probes may be attached to a solid support. Multiple DNA sequences may be amplified simultaneously to produce a reduced complexity sample. The invention further provides for analysis of the above sample to interrogate sequences of interest such as polymorphisms. The amplified sample may be hybridized to an array, which may be specifically designed to interrogate the desired fragments for the presence or absence of a polymorphism.

L'invention concerne de nouvelle m~thodes et trousses permettant de r~duire la complexit~ d'un ~chantillon d'acide nucl~ique pour interroger une collection de s~quences cibles. Dans un mode de r~alisation, on peut r~duire cette complexit~ en agrandissant une sonde de capture sp~cifique d'un locus, puis en amplifiant ladite sonde de capture agrandie ~ l'aide d'amorces communes. Les sondes de capture sp~cifiques d'un locus peuvent Útre fix~es ~ un support solide. De multiples s~quences d'ADN peuvent Útre amplifi~es simultan~ment afin de produire un ~chantillon ~ complexit~ r~duite. L'invention concerne ~galement l'analyse dudit ~chantillon pour interroger des s~quences d'int~rÚt telles que des polymorphismes. L'~chantillon amplifi~ peut Útre hybrid~ avec un r~seau, lequel peut Útre sp~cifiquement con×u pour interroger les fragments voulus concernant la pr~sence ou l'absence d'un polymorphisme.

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