Human mutator gene hmsh2 and hereditary non polyposis...

Details Human mutator gene hmsh2 and hereditary non polyposis... Human mutator gene hmsh2 and hereditary non polyposis...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/7088 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C07K 14/82 (2006.01) C12Q 1/04 (2006.01) C12Q 1/68 (2006.01) G01N 33/574 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2177252

The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error+ (RER+) tumor cells.

On a identifié le gène MSH2 humain responsable du cancer colo-rectal non polyposique héréditaire par son homologie avec la classe de gènes MutS impliqués dans la réparation du mésappariement de l'ADN. L'invention porte également sur la séquence de clones d'ADNc du gène humain, la séquence dudit gène pouvant être utilisée pour démontrer l'existence de mutations de lignées germinales dans les familles de cancer colo-rectal non polyposique héréditaire, ainsi que dans des cellules tumorales d'erreur de réplication?+¿ (RER?+¿).

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