Figure 5. Detection of frameshift mutation (1180insA) in proband 14-1

A: Silver stained SSCP gel for exon 10 shows the mobility shift (arrow). B: Electropherogram shows the normal sequence in control sample. C: Electropherogram shows the addition of an adenine nucleotide (arrow) in PAX6 exon 10 sequences derived from proband 14-1. The mutation results in a frameshift mutation at position 1180.