Figure 4. Sequence of the PCR product of exon 5 in PAX6. The top chromatogram represents the sequence of a normal family member (normal). The middle chromatogram shows a reading frame shift in the proband (III-25, heterozygous), and the arrow indicates the initiation of the mutation site (beginning of overlapping peaks). The bottom chromatogram exhibits the sequence of the extra band of the SSCP removed from the gel (mutant), and the arrow indicates the location of the mutation.