Figure 3
Genotyping, genomic context and breakpoint analysis of CNVR 1123.1. (a) Genome-Wide Human SNP Array 6.0 is presented as plot of normalized probewise log2ratio data in the three panels for diploid, heterozygous and homozygous deletion carriers (CN=2,1,0). (b) Electrophoresis of long-range PCR products of the same samples. The heterozygous deletion carrier generates two PCR products from the normal and the deletion alleles, respectively. (c) The genomic context of the deletion (black) is outlined in relation to the two genes CREB1 (light purple) and FAM119A (dark purple) in cis. The deletion encompasses a conserved PAX6-binding site (orange arrow). The breakpoint for the deletion was sequenced in five individuals and detected the same inserted sequence at the breakpoint. The inserted sequence is present 400 kb downstream from the deletion suggesting a replicative mechanism for rearrangement.
