Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia
Timothy P Holloway, Simone M Rowley, Martin B Delatycki, Joseph P Sarsero
BIOTECHNIQUES | FUTURE SCI LTD | Published : 2011
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 PCR- and restriction enzyme-based assay to assess the purity of GAA repeat sequences.
This work was supported by the Muscular Dystrophy Association (USA), the Friedreich's Ataxia Research Alliance (USA), and the Friedreich Ataxia Research Association (Australasia). M.B.D. is a National Health and Medical Research Council Practitioner Fellow.