Figure 2. A PAX6 mutation identified by DNA sequencing

A reading frame shift was observed by sequencing the PCR products of PAX6 exon 7 in the aniridia patients (heterozygous). Sequence of the normal allele of exon 7 subcloned into the pGEM-T vector was used as control (wild). A deletion of a G residue at nucleotide 857 in exon 7 was identified by sequencing of the mutant allele of exon 7 subcloned into the pGEM-T vector (mutant). Arrow indicates the location of the mutation.