Suzanne de Bruijn

210 Chapter 4 qPCR 2 qPCR 3 qPCR 4 qPCR 2 qPCR 3 qPCR 1 Figure S3. Triplication of region in UK-SV6. Quantitative real-time PCR for individuals from family UK13, UK-SV6. Primer pairs qPCR 2 (first intron of GDPD1 ) and qPCR 3 (downstream of YPEL2 ) confirmed triplication (four copies in the genome) of UK-SV6, compared to control unaffected DNA samples and additional control qPCR assays for genomic regions distal and proximal to this structural variant qPCR 4 (last intron of LINC01476 ) and qPCR1 (exon 3 of SMG8 ). CTL, unaffected control DNA sample; UK-SV6, affected individual DNA sample. Primer sequences are listed in Table S3 .