Figure 1. Genotype pattern of the LOXL1 SNP rs1048661 (R141L). The representative electropherograms show the three genotype patterns for the rs1048661 (G>T) SNP in A (TT; homozygous), B (GT; heterozygous), and C (GG; wild type). 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 SmaI cleaved into fragments of 201 bp, 189 bp, and 74 bp in the wild type (lane 4). Presence of the variant abolished the site for this restriction enzyme, generating an intact fragment of 390 bp and 74 bp in the individual homozygous for this variant (lane 2). The individual with the heterozygous variant (lane 3) exhibits all the fragments (390 bp, 210 bp, 189 bp, and 74 bp). Lane 1 contains the 100 bp DNA ladder (Gene Ruler^TM; MBI Fermentas, Vilnius, Lithuania).