Restriction endonuclease enhanced polymorphic sequence...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12N 15/11 (2006.01)

Patent

CA 2718137

Provided in part herein 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. Provided also 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. In some embodiments, the maternal allele is digested and nucleic acid comprising the paternal allele is relatively enriched.

La présente invention concerne un procédé amélioré de détection dallèles polymorphiques spécifiques dans une population dADN mixte. Le procédé comprend lenrichissement du pourcentage relatif dun allèle polymorphique donné qui est amplifiable exponentiellement par PCR. Il est également proposé des procédés denrichissement sélectif dun acide nucléique cible, par exemple un acide nucléique ftal dans un échantillon maternel. Dans le cas de la détection de lacide nucléique ftal dans un échantillon maternel, une enzyme de restriction est introduite, laquelle peut distinguer les allèles dun site polymorphique. Dans certains modes de réalisation, lallèle maternel est digéré et un acide nucléique comprenant lallèle paternel est relativement enrichi.

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