Figure 4 of Lin, Mol Vis 2011; 17:3116-3120.


Figure 4. DNA sequence of a part of PAX6 in the affected patients and unaffected individuals. A: A heterozygous G deletion at nucleotide 891 (c.891delA) in exon 10 of PAX6. A reading frame shift was observed by sequencing the PCR products of PAX6 exon 10 in the aniridia patients (Heterozygous). The sequence of the normal allele of exon 10, subcloned into the pGEM-T vector, was used as a control (Wild). A deletion of one nucleotide (A) at nucleotide 891 in exon 10 was identified in the same way (Mutant). B: One novel mutation c.607C>T(Arg203X) in exon 8.