Restriction endonuclease enhanced polymorphic sequence...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2680588

Provided is an improved method for the detection of specific polymorphic alleles in a mixed DNA population. The method comprises enriching the relative percentage of a given polymorphic allele that is exponentially amplifiable by PCR. Also provided are methods for selectively enriching target nucleic acid, for example, fetal nucleic acid in a maternal sample. In the case of detecting fetal nucleic acid in a maternal sample, a restriction enzyme is introduced that can discriminate between the alleles of a polymorphic site. Preferably, the maternal allele is digested and nucleic acid comprising the paternal allele is relatively enriched.

L'invention propose un procédé amélioré de détection d'allèles polymorphes spécifiques dans une population d'ADN mixte. Le procédé comprend l'enrichissement du pourcentage relatif d'un allèle polymorphe donné qui est exponentiellement amplifiable par PCR. Des procédés pour enrichir sélectivement un acide nucléique cible, par exemple un acide nucléique fAEtal dans un échantillon maternel, sont également proposés. Dans le cas de la détection d'un acide nucléique fAEtal dans un échantillon maternel, une enzyme de restriction est introduite, laquelle peut distinguer les allèles d'un site polymorphe. De préférence, l'allèle maternel est digéré et l'acide nucléique comprenant l'allèle paternel est relativement enrichi.

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