Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia Paola Ciotti, Emilio Di Maria, Emilia Bellone, Franco Ajmar,

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Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia Paola Ciotti, Emilio Di Maria, Emilia Bellone, Franco Ajmar, Paola Mandich The Journal of Molecular Diagnostics Volume 6, Issue 4, Pages 285-289 (November 2004) DOI: 10.1016/S1525-1578(10)60523-5 Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 TP PCR representative electropherograms, aligned by size (bp). The size standard peaks are indicated in the top panel by vertical segments. The TP PCR signal consists of a ladder with 3bp periodicity, corresponding to the GAA repeat. Both normal and expanded alleles give peaks. The ladder peaks diminishes gradually with increasing product size. The ladder that extends beyond the threshold for the expansion is consistent with the presence of at least one FRDA chromosome. The threshold approximately corresponds to 250 bp, based on the observed size of the TP PCR product from the most frequent normal allele. A: The profile is consistent with the absence of expansion. The ladder demonstrates the amplification of a low number of repeats, below the threshold for expansion. This pattern was obtained from a non-carrier individual. B and C: Both profiles are consistent with the presence of expansion. The ladders extend along the electrophoretic run, beyond the threshold for the expansion. TP PCR patterns were obtained from a heterozygous individual (B) and a homozygous patient (C). The respective genotypes were assayed by the means of both short PCR and TP PCR: along the presence of the expansion demonstrated in both subjects, the short PCR pattern allowed to detect the presence of the normal allele in the heterozygous individual (data not shown). The Journal of Molecular Diagnostics 2004 6, 285-289DOI: (10.1016/S1525-1578(10)60523-5) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions