Method for quantitative evaluation of a rearrangement or a...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2548053

A method for quantitative evaluation of a rearrangement or targeted genetic recombination of an individual and the immunity repertoire of an individual and the uses thereof, particularly in the case of follow-up to a treatment or in the diagnosis and/or prognosis of certain pathologies. Said method comprises at least: (a) extraction of human genomic DNA from a biological sample, (b) amplification of a segment of said genomic DNA, the size thereof ranging from a few hundreds of base pairs and several quantities of ten kb by multiplex PCR in the presence of: one or several couples of primers, and polymerase DNA or a polymerase DNA mixture enabling the amplification of segments of genomic DNA, the size thereof ranging from several hundreds of base pairs and several quantities of ten kb, having a corrective effect enabling elongation to be substantially improved, said amplification also comprising a stage of initial denaturation, cycles of denaturation, hybridation and elongation and wherein the elongation stages are carried out at least during a period of 10 minutes at 68 ·C-72 ·C; (c) separation of the amplified DNAg fragments and (d) detection of the rearranged or recombined segments.

Procédé d'évaluation quantitative d'un réarrangement ou d'une recombinaison génétique ciblée d'un individu et notamment du répertoire immunitaire d'un individu et ses applications, notamment dans le suivi d'un traitement ou dans le diagnostic et/ou le pronostic de certaines pathologies. Ledit procédé comprend au moins : (a) l'extraction de l'ADN génomique humain, à partir d'un échantillon biologique, (b) l'amplification d'un segment dudit ADN génomique, de taille comprise entre quelques centaines de paires de bases et plusieurs dizaines de kb, par PCR multiplex, en présence : d'un ou plusieurs couples d'amorces, et d'une ADN polymérase ou d'un mélange d'ADN polymérases permettant l'amplification de segments d'ADN génomique de taille comprise entre quelques centaines de paires de bases et plusieurs dizaines de kb et ayant une activité de correction permettant d'améliorer sensiblement l'élongation ; ladite amplification comprenant outre l'étape de dénaturation initiale, des cycles des cycles de dénaturation, d'hybridation et d'élongation et, dans lesquels les étapes d'élongation sont effectuées au moins pendant 10 minutes à 68·C-72·C ; (c) la séparation des fragments d'ADNg amplifiés et (d) la détection des segments réarrangés ou recombinés.

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