Lafora's disease gene

摘要

A novel gene (EPM2B) that is mutated in humans and dogs with Lafora's disease is described.

主权项

1. A method of detecting a mutation in an EPM2B nucleic acid in a biological sample obtained from a human subject, comprising:
(a) contacting an EPM2B nucleic acid in a biological sample obtained from a human subject under stringent hybridization conditions with an oligonucleotide, wherein the oligonucleotide sequence hybridizes to an EPM2B mutation under stringent hybridization conditions, wherein the mutation is selected from the group consisting of a T to A change at a position corresponding to nucleotide position 76 of SEQ ID NO:1; a G to A change at a position corresponding to nucleotide position 838 of SEQ ID NO: 1; a deletion of nucleotide A at a position corresponding to position 468 of SEQ ID NO:1; a deletion of nucleotide C at a position corresponding to position 204 of SEQ ID NO:1; a deletion of nucleotides AG at positions corresponding to positions 468 and 469 of SEQ ID NO:1; a C to T change at a position corresponding to nucleotide position 676 of SEQ ID NO:1; a deletion of nucleotides at positions corresponding to positions 373-382 of SEQ ID NO:1; a deletion of nucleotides at positions corresponding to positions 661-692 of SEQ ID NO:1; a T to C change at a position corresponding to nucleotide position 260 of SEQ ID NO:1; an A to C change at a position corresponding to nucleotide position 905 of SEQ ID NO:1; a T to C change at a position corresponding to nucleotide position 98 of SEQ ID NO:1; an insertion of two T nucleotides at a position corresponding to position 892 of SEQ ID NO:1; a G to A change at a position corresponding to nucleotide position 436 of SEQ ID NO:1; a deletion of nucleotide T at a position corresponding to nucleotide position 1100 of SEQ ID NO:1; a deletion of nucleotide T at a position corresponding to position 606 of SEQ ID NO:1; a A to T change at a position corresponding to nucleotide position 923 of SEQ ID NO:1; a G to T change at a position corresponding to nucleotide position 580 of SEQ ID NO:1; and a G to T change at a position corresponding to nucleotide position 199 of SEQ ID NO:1; and (b) detecting hybridization of the oligonucleotide with the EPM2B nucleic acid, wherein detecting hybridization is indicative of the presence of a mutation in the EPM2B nucleic acid.