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• [View PDF] - Figure 1 Electropherograms from semi-quantitative fluorescent multiplex PCR experiments. The x axis displays the computed length of the PCR products in base pairs as determined by using an internal lane standard, which is indicated in black. The y axis shows fluorescent intensities in arbitrary units. Gene fragments are indicated at the top of the corresponding peaks. The electropherograms of the controls are in red and those of the patients are in blue. The profiles were superimposed and normalised using the exon 4 DSCR1 amplicon. The abnormal profiles have been highlighted by arrows and extended (windows). (A) CFTRdele17a–17b visualised from MP 3 in patient no. 7 (twofold decrease in peak intensities for exons 17a and 17b). (B) CFTRdele1–24, visualised from MP 2 in patient no. 10 (twofold decrease in peak intensity for all CFTR exons). For CFTR exon 9, the presence of a double peak in the control is attributable to the (TG)mTn polymorphism. (C) CFTRdup4–8, visualised from MP 1 in patient no. 11’s mother (1.5-fold increase in peak intensity for exons 4–6a). She carries in trans the –912dupT polymorphism in the promoter region (double peak).