Figure 1. A novel de-novo PAX6 mutation in an Ashkenazi-Jewish family. A: A schematic representation of family MOL0407 is shown. The black filled shapes denote individuals affected with aniridia. The numbers above the symbols indicate the recruited individuals, and the numbers within the symbols indicate the number of siblings. The arrow indicates the index patient. The haplotype of each individual is represented below the individual symbol. Numbers represent the size of the PCR product containing the microsatellite sequence, "M" represents the mutant allele, and "+" represents the normal allele. B: Sequence analysis of exon 6 in PAX6 is shown. The upper chromatogram represents the wild-type sequence of an unaffected family member, and the lower chromatogram represents a heterozygous mutation (patient II-3). The position of the insertion is indicated by an arrow. The wild type PAX6 amino acid sequence is shown above the upper chromatogram and the mutant amino acid sequence is shown below the lower chromatogram.