PMC6421267_01
Melting curve relative to rs3918290 (c.1905+1G>A) genotyping using LAMP Human DPD deficiency kit (LaCAR MDx Technologies, Lieges, Belgium). The melting curve observed with the patient sample (blue line) is clearly different from those associated with the wild-type genotype (green and yellow lines) and the heterozygous genotype (red line). This atypical profile of the melting curve suggested the presence of an uncommon SNP.
fonc-09-00139-g0001.jpg
PMC6421267_01_fonc-09-00139-g0001.jpg
F1
However, an atypical profile of the melting curve relative to rs3918290 genotyping was observed (Figure 1).
Direct sequence analysis of the DPYD c.1903A>G, p.Asn635Asp variant detected in our patient. The upper panel shows the gDNA sequence of exon 14 and intron-exon border. The lower panel shows the patient cDNA sequence, performed with primers spanning exons 13 and 15, demonstrating the integrity of exon 14.
fonc-09-00139-g0002.jpg
PMC6421267_01_fonc-09-00139-g0002.jpg
F2
Sequence analysis performed on the cDNA tract including exons 13-15 did not indicate exon 14 skipping (Figure 2).