Patent ID: 9173897
Filing Date: 2015-11-03
Classification: A61K,A61P,C12Q,G01N

Abstract:
1. A method of detecting a mutation in a UBQLN2 nucleic acid in a human sample, comprising: (a) contacting a UBQLN2 nucleic acid in a human sample with an oligonucleotide that specifically hybridizes to one or more missense mutations in a UBQLN2 nucleic acid, wherein the one or more missense mutations results in a substitution of a proline in the 12 P-X-X tandem repeats encoded by the UBQLN2 gene; and (b) detecting hybridization of the oligonucleotide with the UBQLN2 nucleic acid under specific hybridization conditions, wherein detection of hybridization is indicative of a mutation in the UBQLN2 nucleic acid.