Figure 2. Novel PAX6 deletion in exon 5

A: Pedigree of Family 1. Males and females are represented by squares and circles, respectively, and affected family members are darkened symbols. The numbers under the symbols are the identification numbers of subjects in the pedigree and the patient above the arrow is the proband.The inheritance pattern in this family appears to be autosomal dominant. B: A reading frame shift was observed by sequencing the PCR products of PAX6 exon 5 in the aniridia patients (heterozygous). C: Sequence of the normal allele of exon 5 subcloned into the pGEM-T vector was used as a control (wild). D: A deletion of nine nucleotides(GACATTTCC) at nucleotide 483 in exon 5 was identified by the same way (mutant).