Fig. 2

Sanger DNA sequencing and absolute quantitation by digital PCR analyses of ABCC8:c.1792C > T and allele difference plots of chromosome 11. a Sanger DNA sequencing results showed C:T allelic ratio in DNA extracted from peripheral blood and Pancreas 1A and 2A tissues of the proband. b The proportion of c.1792 T variant in mother, father and proband. The c.1792 T was absent in the mother and presence at 50% in father and proband blood DNA. Pancreas 1A and 2A DNA showed to have 88.8 and 70.6%. of c.1792 T. The proportion of c.1792 T in each DNA sample was averaged of 3 independent assays. Error bars: standard error mean. c Allele difference plots of chromosome 11 on DNA extracted from Pancreas 1A and 2A and from peripheral blood of proband and proband’s parents. Red horizontal curly bracket and red vertical rectangle indicate the 17.44 Mb of AOH region in 11p15.5p15.1, arr [GRCh37] 11p15.5p15.1(230750_17671331)× 2 hmz, in Pancreas 1A and 2A. The affected SNPs in Pancreas 1A and 2A are shown in dark grey dots. High level of mosaicism is observed in Pancreas 2A. Vertical dotted line and arrow indicates the location of ABCC8 gene (chr11:17414431–17,498,392, human genome assembly: GRCh37) which is situated with in the AOH region (within red vertical rectangle). Inset (lower right) illustrates the segmental paternal UPD 11p and the location of c.1792C > T in the pancreas DNA, where the beige and white color shaded regions represents maternal and paternal inherited chromosome respectively