title: Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.
abstract: 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.
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Timothy P
authors.initials: TP
authors.lastname: Holloway
authors.forename: Simone M
authors.initials: SM
authors.lastname: Rowley
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: Joseph P
authors.initials: JP
authors.lastname: Sarsero
mesh_terms: D001483:Base Sequence; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005621:Friedreich Ataxia / Q000235:genetics*; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000191:economics / Q000379:methods*; D019680:Trinucleotide Repeat Expansion; D000096923:Frataxin
chemical_list: D015252:Deoxyribonucleases, Type II Site-Specific; D033862:Iron-Binding Proteins; D000096923:Frataxin; C024413:endodeoxyribonuclease MboII