METHODS AND MATERIALS FOR DETECTING C9ORF72 HEXANUCLEOTIDE REPEAT EXPANSION POSITIVE FRONTOTEMPORAL LOBAR DEGENERATION OR C9ORF72 HEXANUCLEOTIDE REPEAT EXPANSION POSITIVE AMYOTROPHIC LATERAL SCLEROSIS

摘要

This document provides methods and materials for detecting C9ORF72 hexanucleotide (GGGGCC) (SEQ ID NO: 3) repeat expansion positive (C9+) frontotemporal lobar degeneration or C9+ amyotrophic lateral sclerosis. For example, methods and materials related to using anti-(GP)8 (SEQ ID NO: 2) antibodies to identify mammals (e.g., humans) having C9+ FTLD or C9+ ALS are provided.

主权项

1. A method for identifying a mammal having an expanded hexanucleotide (GGGGCC) repeat in a noncoding region of at least one C9ORF72 allele, wherein said method comprises:
(a) contacting a biological sample obtained from said mammal with an anti-polyGP antibody under conditions wherein a polyGP polypeptide present within said biological sample and said anti-polyGP antibody form a polyGP polypeptide/anti-polyGP antibody complex, (b) detecting said polyGP polypeptide/anti-polyGP antibody complex, and (c) classifying said mammal as having said expanded hexanucleotide (GGGGCC) repeat.