Figure 3. Genotype pattern of the intronic LOXL1 SNP rs2165241. Representative electropherograms show the three genotype patterns for the rs2165241 (C>T) SNP in A (CC; wild type), B (TT; homozygous), and C (CT; heterozygous). 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 (264 bp) for LOXL1 (obtained using the primer pairs 5′-TAG GGC CCC TTG GAG AAT AG-3′ and 5′-GTC CCA TTC CCC TCT CAA TC-3′) after digestion with SspI generated an intact fragment of 264 bp in the wild type (lane 1). Presence of the variation generated a restriction site for this enzyme and cleaved into fragments of 147 bp and 117 bp in the individual homozygous for this change (lane 2). The individual heterozygous for this change (lane 3) exhibited all three fragments (264 bp, 147 bp, and 117 bp). Lane 4 contains an undigested amplicon, and Lane 5 contains the 100 bp DNA ladder (Gene Ruler^TM; MBI Fermentas, Vilnius, Lithuania).