Identification of the causative mutation for hereditary...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C12N 9/90 (2006.01) C12N 15/61 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2682232

Methods are provided for determining whether or not a horse is genetically normal, is a carrier of, or is affected with or predisposed to Hereditary Equine Regional Dermal Asthenia ("HERDA"). The method is based on detection of a G to A point mutation in the horse cyclophilin B (CYPB) gene.

L'invention concerne des procédés pour déterminer si un cheval est génétiquement normal ou non, s'il est porteur d'une asthénie dermique régionale équine héréditaire ("HERA"), ou s'il est atteint de celle-ci ou prédisposé à celle-ci. Le procédé est fondé sur la détection d'une mutation de points G à A dans le gène de cyclophiline B (CYPB) du cheval.

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