Method and apparatus for determining the existence of a...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12M 1/34 (2006.01) G01N 21/64 (2006.01)

Patent

CA 2237156

In a method for determining the existence of a mutation in a nucleic acid fragment from an electric signal generated by a DNA sequencer and made up of sequence information produced by fluorescent fragment products of different lengths of said nucleic acid fragment, followed by a run-off peak produced by fluorescent full length fragment products of said nucleic acid fragment, any difference between said run-off peak and a reference run-off peak generated by unmutated full length fragment products of said nucleic acid fragment, is determined, a difference indicating the existence of a deletion or insertion mutation.

La présente invention concerne un procédé de mise en évidence d'une mutation dans un fragment d'acide nucléique à partir d'un signal électrique généré par un séquenceur d'ADN, et constitué d'informations de séquence fournies par des produits fragmentaires fluorescents de différentes longueurs contenus par le fragment d'acide nucléique, suivies d'une crête de fin de séquence générée par les produits fragmentaires fluorescents dudit fragment d'acide nucléique. On recherche toute différence entre ladite crête de fin de séquence et une crête de fin de séquence de référence générée par les produits fragmentaires pleine longueur n'ayant pas muté dudit fragment d'acide nucléique, une différence indiquant l'existence d'une mutation par délétion ou insertion.

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