Figure 2. Pedigrees and mutation sequences in the PAX6 gene

Males and females are represented by squares and circles, respectively, and affected family members are darkened symbols. Partial DNA sequence chromatographs of PAX6 genomic sequences from affected individuals in two isolated cases (A and D) and in four unrelated families (B, C, E and F) are shown. The accurate mutations in families and isolated patients were indicated as closely as possible to each sequence and their names were provided according to the international nomenclature for human gene mutations. The nucleotide numbering of the mutations was based on the sequence of the PAX6(-5a) isoform.