Method of detecting bone paget's disease

Details Method of detecting bone paget's disease Method of detecting bone paget's disease

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) A01K 67/027 (2006.01) C12N 9/10 (2006.01) C12N 9/16 (2006.01) C12Q 1/48 (2006.01)

Patent

CA 2505707

It is intended to provide a method of detecting bone Paget~s disease and an animal presenting pathological conditions of bone Paget~s disease. Association of a mutation or expression dose of chondroitin/chondroitin sulfate synthase gene comprising an amino acid sequence represented by any of SEQ ID NOS:2, 4, 6, 66, 68 and 70 with bone Paget~s disease; detection of bone Paget~s disease; and a knockout animal obtained by knockouting the above-described chondroitin/chondroitin sulfate synthase gene.

L'invention concerne une méthode de détection de la maladie osseuse de Paget et un animal présentant des états pathologiques de la maladie osseuse de Paget. L'invention concerne également l'association d'une dose de mutation ou d'expression d'un gène de chondroitine/chondroitine sulfate synthase comprenant une séquence d'acides aminés représentée par une SEQ ID NO quelconque parmi : 2, 4, 6, 66, 68 et 70 avec la maladie osseuse de Paget ; la détection de la maladie osseuse de Paget ; et un animal inactivé obtenu par inactivation du gène de chondroitine/chondroitine sulfate synthase susmentionné.

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