Human dna mismatch repair proteins

Details Human dna mismatch repair proteins Human dna mismatch repair proteins

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/00 (2006.01) C07K 14/47 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2182206

The present invention discloses three human DNA repair proteins and DNA (RNA) encoding such proteins and a procedure for producing such proteins by recombinant techniques. One of the human DNA repair proteins, hMLH1, has been mapped to chromosome 3 while hMLH2 has been mapped to chromosome 2 and hMLH3 has been mapped to chromosome 7. The invention provides methods to diagnose alterations in the hMLH1, hMLH2 and hMLH3 genes.

Cette invention se rapporte à trois protéines humaines de réparation de l'ADN et à l'ADN (ARN) qui code ces protéines ainsi qu'à un procédé de production de ces protéines par des techniques de recombinaison. Une de ces protéines humaines de réparation de l'ADN, hMLH1, a été cartographiée sur le chromosome 3 alors que hMLH2 et hMLH3 ont été respectivement cartographiées sur les chromosomes 2 et 7. Cette invention concerne également des procédés permettant de diagnostiquer des altérations dans les gènes hMLH1, hMLH2 et hMLH3.

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