Figure 3. Chromatogram showing the homozygous deletion mutation in the TYR gene

Chromatogram showing the sequence in exon 5 of the TYR gene in mutant and the correpsonding normal sequence. Panels show the forward (A) and reverse (B) sequence derived from a normal individual and forward (C) and reverse (D) sequence derived from an OCA1 patient. A two base pair deletion (c.1379del2) observed in this OCA1 patient is highlighted with double colons.