Figure 1.

A) Normal pattern of the DPYD gene MLPA analysis. There are 40 MLPA probes for the DPYD gene (12 exons were covered by two probes and three probes were present for exon 1. The 436 nt probe will only generate a signal on DNA samples containing the IVS14+1 G>A mutation) and eight control probes. On the x-axis all these probes are indicated. B) Normalized MLPA results where the y-axis shows the relative probe peak height as an indication of copy number. Normalized values were 1.0 in the absence of copy number change, and 0.5 and 1.5 in the case of heterozygous deletion and duplication, respectively