Fig. 5
From: Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Transcript analysis of PSEN1 in patient 16. The bar graph shows the relative quantifications of exon 6 in the double carrier (patient 16, PSEN1 p.G183V, p.P49L), single carrier (PSEN1 p.G183V) and non-carrier lymphoblast cells CHX treated (CHX) and untreated (UNT). Relative quantifications of splice junctions were calculated by dividing the number of junction-supporting reads by the total number of reads spanning the PSEN1 transcript. The quantifications for both CHX and UNT of the non-carriers are reported as averages (values of SD for CHX ± 0.001052869 and for UNT ± 0.000671837) (a). Visualization of the PSEN1 exon 6 cDNA MinION reads from Integrative Genomic Viewer software (IGV). Sequencing reads of PSEN1 cDNA of the double and single carriers confirm exon 6 skipping due to the PSEN1 p.G183V mutation (b)