fig2

Figure 2. Panel A shows photograph of ethidium bromide-stained polyacrylamide gel of the BspDI digests to validate and genotype the ADD3 mutation c.169C>T Arg57X. M is the molecular weight marker lane, U contains uncut PCR product. The arrow indicates the smaller fragment validating the mutation in the proband 141 and his daughter 1661 and not in three other family members. Panel B shows the DNA sequencing chromatogram demonstrating the ADD3 heterozygous mutation in the proband's daughter's DNA [red (T)/blue (C) double peaks in top two lines; control sequence on the bottom line]