Figure 6. Mutational analysis of the γD-crystallin (CRYGD) gene

A: CRYGD exon 1 and 2 amplified from genomic DNA of the ADCC affected family and analyzed on a 1.5% agarose gel. B: Sequence chromatograms showing a C->A heterozygous transversion at nucleotide position 70 in CRYGD exon 2, which was predicted to substitute the amino acid proline for a threonine (P23T), found in all affected individuals. C: The sequence change was not observed in all unaffected family members, spouses in the family, and 100 unrelated control individuals.