Figure 4. Sequence of the polymerase chain reaction product of exon 5 in paired box 6 gene in FAMILY-1. The top chromatogram represents the sequence of a normal family member (III:3). The middle chromatogram shows a reading frame shift in the proband (III:1, heterozygous), and the arrow indicates the initiation of the mutation site (beginning of overlapping peaks). The bottom chromatogram shows the sequence from the haplotyping of the mutation sequence, and the arrow indicates the location of the mutation.