Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia

摘要: Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is associated with unstable expansion of a GAA trinucleotide repeat in the first intron frataxin gene on chromosome 9q13. Unequivocal molecular characterization FRDA triplet requires use different PCR protocols to amplify normal and mutated alleles combined Southern blotting analysis accurately size expansion. Nevertheless, detection by may be somewhat problematic heterozygous individuals. The purpose this study was evaluate primed (TP PCR) as screening method for diagnosis diagnostic laboratory. Fifty-four cases referred either confirm or detect carrier status were re-evaluated TP method. assay correctly identified all 54 individuals tested including homozygous expansions (9 individuals), (20 non-carriers (25 individuals). Results showed 100% concordance those obtained blot analysis. allowed us identify expanded demonstrate their absence DNA samples where conventional procedures failed give reliable result. represents additional valuable tool mutation patients carriers, but also can used test