Figure 4. Two CYP1B1 SNPs in the glaucoma family. A: C>G variation in exon 2 of CYP1B1. The codon CGG in exon 2 was replaced by GGG, resulting in a change of amino acid from arginine to glycine (R48G). B: C>T variation in intron 1 of CYP1B1. These two SNPs occurred in all six patients afflicted with glaucoma, and were not found in asymptomatic family members except
the proband’s paternal grandmother. Arrows indicate the sequence difference, and the one in red indicates the wild type sequence.