C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/70 (2006.01) A61K 38/17 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01) A61K 38/00 (2006.01)
Patent
CA 2254083
The present invention involves isolated nucleic acid encoding human PKD1, and sequences derived therefrom. The invention also encompasses vectors comprising these nucleic acids, host cells transformed with the vectors, and methods for producing PKD1 protein or fragments thereof. In another aspect, the invention involves isolated oligonucleotides that hybridize only to the authentic expressed PKD1 gene, and not to PKD1 homologues. In yet another aspect, the invention involves isolated mutant PKD1 genes, and their cDNA cognates. Further provided are isolated oligonucleotides that discriminate between normal and mutant versions of the PKD1 gene. Methods and compositions for treating APKD or disease conditions having the characteristics of APKD are also provided.
La présente invention concerne l'acide nucléique isolé codant la protéine PKD1, des séquences dérivées de celui-ci, des vecteurs comprenant ces acides nucléiques, des cellules hôtes transformées à l'aide de ces vecteurs, ainsi que des procédés de production de la protéine PKD1 ou de fragments de celle-ci. L'invention concerne encore des oligonucléotides isolés s'hybridant seulement au gène authentique PKD1 exprimé et pas aux homologues de celui-ci. Elle se rapporte également à des oligonucléotides isolés distinguant les versions normales des versions mutantes du gène PKD1. On décrit enfin des procédés et des compositions destinés au traitement de la polykystose rénale ou d'états maladifs présentant les caractéristiques de cette polykystose.
Burn Timothy
Connors Timothy
Dackowski William
Germino Gregory
Klinger Katherine
Genzyme Corporation
Gowling Lafleur Henderson Llp
The Johns Hopkins University
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