Suzanne de Bruijn

208 Chapter 4 SUPPLEMENTARY FIGURES 100bp 1kb SV1 (B1) SV3 (B1) SV3 (B2) SV3 (B3) SV4 (B1) SV4 (B2) SV5 (B1) P C P C P C P C P C P C P C 1kb plus SV2 (B1) SV2 (B2) SV6 (B1) SV7 (B1) SV7 (B2) SV8 (B1) SV8 (B2) P C P C P C P C P C P C P C 1kb plus Figure S1. Agarose gels of of allele-specific breakpoint junction PCR amplications. PCR amplification of allele-specific breakpoints was performed, and gel electrophoresis was used for visualization. For each structural variant, allele-specific breakpoints (B) could be amplified in affected individual DNA (P) but not in DNA obtained from anonymous controls (C). Breakpoint junction nomenclature corresponds to those illustrated in Figure 2 . Primer sequences used for PCR amplifcation are listed in Table S2 .