Fig. 2

Analysis of copy number variation in the DPYD gene using MLPA. MLPA ratio charts of the patient (A), the patient’s mother (B), the patient’s father (C) and a healthy individual used as control (D). For the analysis, 33 probes covering exons, four probes within DPYD introns (two specific for the wild type sequence and two for the c.1129-5923C > G and the IVS14 + 1G > A variants, respectively) as well as 9 control, reference probes (coloured in grey) were used. The blue and red lines represent the cut-off values, used to determine increased or reduced copy numbers of targeted sequences. Note that the annotation of exons in the SALSA probemix used for MLPA analysis takes into account an additional exon (designated as Exon 6) which is not present in transcript NM_000110.4 and for which no probe was included. Hence, the missing exons in the present analysis are indicated as Exons 10 and 11