A novel diagnostic marker for splicing variants of genes associated with neurological function

摘要

Methods are described for detecting the presence or absence of a four amino acid motif (VRXQ) in expressed proteins that arise from aberrant alternative splicing of premRNA in genes associated with normal neurological function which are useful for detecting neurodegenerative disease. The presence of these variants suggest that mutational events in these genes have occurred. Methods to measure the levels of gene expression of such genes to detect neurodegenerative disease are provided. Nucleotide sequences and intron-exon junctional sequences of examples of this splicing variant and probes for detecting this variant which are useful as diagnostic reagents are also provided.