Figure 2 of
Nallathambi, Mol Vis 2006;
12:236-242.
Figure 2. Genetic analysis of PAX6 in two unrelated families with optic nerve malformation
A: The exon 5 PCR product of PAX6 showed an extra band (arrow) on the 10% polyacrylamide gel, and sequencing of the normal (N) and mutant (M) DNA revealed the G>C change that replaces Gly by Ala in proband ONH 4-1. B: The unusual banding pattern was observed in exon 6 of PAX6, and the antisense strand sequencing of normal (N) and mutant (M) DNA showed the nucleotide change G>C (GGA [Gly51] to GCA [Ala]) in probands ODC 3-1.