Figure 2 of Rao, Mol Vis 2008; 14:1254-1262.


Figure 2. Genotype pattern of the LOXL1 SNP rs3825942 (G153D). Representative electropherograms show the three genotype patterns for the rs3825942 (G>A) SNP in A (GA; heterozygous), B (GG; wild type), and C (AA; homozygous). The arrow heads indicate the point of substitution. The normal sequence is provided in the upper panel above each electropherogram. D demonstrates the confirmation of these variants by PCR-based restriction digestion in a non-denaturing polyacrylamide gel. The PCR amplicon (464 bp) for LOXL1 (obtained using the primer pairs 5′-GCA GGT GTA CAG CTT GCT CA-3′ and 5′-ACA CGA AAC CCT GGT CGT AG-3′) after digestion with HinfI generated an intact fragment of 464 bp in the wild type (lane 3). Presence of the variation generated a restriction site for this enzyme and cleaved into fragments of 311 bp and 153 bp in the individual homozygous for this change (lane 4). The individual heterozygous for this change (lane 2) exhibited all three fragments (464 bp, 311 bp, and 153 bp). Lane 1 contains the 100 bp DNA ladder (Gene RulerTM; MBI Fermentas, Vilnius, Lithuania).