Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in (Pre-)Clinical Development for Duchenne Muscular Dystrophy
Fig 7
Taqman assay for 4 additional deletions.
The specificity of Taqman assays with a probe detecting the exon junctions with (DMD ex44-52.3/DMD ex48-52/DMD ex49-52.2/DMD ex51-53) and without (DMD ex51-52.2/DMD ex51-53) exon 51 skip for four additional relatively frequent deletions amenable to exon 51 skipping (Δ45–50, Δ49–50, Δ50, and Δ52) was confirmed on representative dystrophin cDNA constructs with or without exon 51 (A). Exon 51 skip quantification in MyoD converted patient fibroblasts (Δ45–50 and Δ52) with and without ex51 AON treatment in triplicate (B). Merged data of 3 replicates is indicated by solid markers. Data is represented as mean with 95% CI (dark grey error bars: poisson CI; light grey error bars: total CI).