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 pre-mRNA in genes associated with normal neurological function. The presence of these variants suggest that mutational events in these genes have occurred. Nucleotide sequences and nitron-exon junctional sequences of examples of this splicing variant are provided.