Figure 2. New CNVs overlapping VISTA enhancers.
aCGH results for sample 1 (a), 25 (b) and 27 (c) showing deletions overlapping enhancers hs775, hs676 and hs607, respectively. (d) Genotyping assay for deletions in enhancers hs775 (upper panel), hs676 (middle panel) and hs607 (lower panel): triplex PCR with a forward primer (bpF) located 5' to the breakpoint, a reverse primer within the deleted region (in red) and a second one 3′ the distal breakpoint (box represents the enhancer elements). Bands of 264 bp, 380 bp and 360 bp, respectively, correspond to bpF-IntR amplicons, the lower bands represent bpF-bpR amplicons. Only sample 1 (* in upper panel), 25 (• in middle panel) and 27 (♦ in lower panel) show, respectively, the double bands, all the other analyzed samples show a normal pattern.