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.
