Best's macular dystrophy gene

Details Best's macular dystrophy gene Best's macular dystrophy gene

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/02 (2006.01) C07K 14/00 (2006.01) C07K 14/435 (2006.01) C07K 14/47 (2006.01) C07K 16/00 (2006.01) C07K 16/18 (2006.01) C12N 5/10 (2006.01) C12N 15/63 (2006.01) C12P 19/34 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2321129

Novel human and mouse DNA sequences that encode the gene CG1CE, which, when mutated, is responsible for Best's macular dystrophy, are provided. Provided are genomic CG1CE DNA as well as cDNA that encodes the CG1CE protein. Also provided is CG1CE protein encoded by the novel DNA sequences. Methods of expressing CG1CE protein in recombinant systems are provided. Also provided are diagnostic methods that detect patients having mutant CG1CE genes.

Nouvelles séquences d'ADN humain et de souris codant le gène CG1CE qui, lorsqu'il est muté, est responsable de la dystrophie cornéenne de Best. La présente invention concerne en outre de l'ADN génomique CG1CE ainsi que de l'ADNc qui code la protéine CG1CE, la protéine CG1CE codée par les nouvelles séquences d'ADN, des procédés d'expression de la protéine CG1CE dans des systèmes de recombinaison et des méthodes diagnostiques permettant d'identifier les patients possédant des gènes CG1CE mutés.

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