Identification of the genetic determinants of the...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12N 9/02 (2006.01)

Patent

CA 2432339

The present invention relates to a polymorphic CYP3A5 polynucleotide. Moreover, the invention relates to genes or vectors comprising the polynucleotides of the invention and to a host cell genetically engineered with the polynucleotide or gene of the invention. Further, the invention relates to methods for producing molecular variant polypeptides or fragments thereof, methods for producing calls capable of expressing a molecular variant polypeptide and to a polypeptide or fragment thereof encoded by the polynucleotide or the gene of the invention or which is obtainable by the method or from the cells produced by the method of the invention. Furthermore, the invention relates to an antibody which binds specifically the polapeptide of the invention. Moreover, the invention relates to a transgenic non-human animal. The invention also relates to a solid support comprising one or a plurality of the above mentioned polynucleotides, genes, vectors, polypeptides, antibodies or host cells. Furthermore, methods of identifying a polymorphism, identifying and obtaining a prodrug or drug or an inhibitor are also encompassed by the present invention. In addition, the invention relates to methods for producing of a pharmaceutical composition and methods of diagnosing a disease. Further, the invention relates to a method of detection of the polynucleotide of the invention. Furthermore, comprised by the present invention are a diagnostic and a pharmaceutical composition. Even more the invention relates to uses of the polynucleotides, genes, vectors, polypeptides or antibodies of the invention. Finally, the invention relates to a diagnostic kit.

L'invention concerne un polynucléotide polymorphe CYP3A5. Elle concerne aussi des gènes ou des vecteurs comprenant les polynucléotides de l'invention et une cellule hôte génétiquement modifiée au moyen du polynucléotide ou du gène de l'invention. Elle concerne encore des procédés de production des polypeptides de variant moléculaire ou des fragments de ceux-ci, de procédés de production de cellules capables d'exprimer un polypeptide de variant moléculaire et un polypeptide ou un de ses fragments codé par le polynucléotide ou le gène de l'invention ou que l'on peut obtenir au moyen du procédé ou des cellules produites par le procédé de l'invention. Elle concerne encore un anticorps qui se lie spécifiquement au polypeptide de l'invention. Elle concerne, en outre, un animal non humain transgénique. Elle concerne aussi un support solide comprenant un ou plusieurs des polynucléotides, gènes, vecteurs, polypeptides, anticorps et cellules hôtes mentionnés. Elle concerne encore des procédés d'identification d'un polymorphisme, d'identification et d'obtention d'un promédicament ou d'un médicament ou d'un inhibiteur. Elle concerne, en outre, des procédés de production de composition pharmaceutique, des procédés de diagnostic d'une maladie, un procédé de détection du polynucléotide de l'invention, un diagnostic et une composition pharmaceutique. Elle concerne encore l'utilisation des polynucléotides, gènes, vecteurs, polypeptides ou anticorps de l'invention. Elle concerne enfin un nécessaire de diagnostic.

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