Detection of interruptions in the GAA trinucleotide repeat expansion in the EXN gene of Friedreich ataxia

摘要

Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene. Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity. We have developed a simple and rapid PGR- and restriction enzyme-based assay to asess the purity of GAA repeat sequences.