Method for detecting and evaluating a potentially aberrantly...

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2388834

The invention relates to a method for detecting and evaluating a potentially aberrantly methylated DNS region on the X chromosome or the clonality. The extend of the methylation of the potentially aberrantly methylated DNS region and optionally the extend of the methylation in a securely physiologically methylated DNS area of the X chromosome and/or the extend of the methylation as well as optionally the sequence variant of a polymorphous DNS region of the X-chromosome is/are determined in a sample, whereby said variant can be methylated physiologically or aberrantly. The presence and optionally the variant and the extend of the potential aberration or the clonality is/are subsequently diagnosed by comparing the determined methylations and optionally the sequence variant.

L'invention concerne un procédé pour la détection et l'évaluation d'une région D'ADN méthylée de manière potentiellement aberrante sur le chromosome X ou de la clonalité. Selon ce procédé, on détermine dans un échantillon l'étendue de la méthylation de la région d'ADN méthylée de manière potentiellement aberrante et éventuellement l'étendue de la méthylation dans une région D'ADN du chromosome X méthylée physiologiquement sûrement ou l'étendue de la méthylation ainsi qu'éventuellement la variante de séquence d'une région D'ADN polymorphe du chromosome X qui peut être méthylée soit physiologiquement soit de manière aberrante. Puis, on diagnostique, à partir de la comparaison des méthylations déterminées et éventuellement de la variante de séquence, la présence et éventuellement la variante et l'étendue de l'aberration potentielle ou de la clonalité.

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