SEQUENCES ASSOCIATED WITH TDP-43 PROTEINOPATHIES AND METHODS OF USING THE SAME

摘要

PROBLEM TO BE SOLVED: To provide: nucleic acids and peptides; methods of using the nucleic acids and the peptides to identify subjects at risk for a TAR DNA-binding protein 43 (TDP-43) proteinopathy; and an array which contains the nucleic acids and the peptides.SOLUTION: A TDP-43 proteinopathy is characterized by substitution of a guanine at nucleotide 1077 of a specific base sequence to an adenine. A risk for the TDP-43 proteinopathy is determined using a restriction enzyme that generates a unique fragment in the case of the substitution at nucleotide 1077 of TDP-43.