Suzanne de Bruijn

136 Chapter 3.1 W97-056 Marker D6S276 D6S2439 D6S1554 D6S1571 D6S1545 D6S1281 D6S1621 III:11 M/+ Mb 24.19 24.31 24.84 24.96 24.98 25.30 25.50 III:11a +/+ IV:24 +/+ IV:25 M/+ 5 1 1 1 4 2 1 7 7 3 2 2 2 1 7 5 3 3 2 2 1 1 5 1 2 2 2 4 3 3 7 5 3 3 2 2 1 5 1 1 1 4 2 1 Marker D6S276 D6S2439 D6S1554 D6S1571 D6S1545 D6S1281 D6S1621 Mb 24.19 24.31 24.84 24.96 24.98 25.30 25.50 W02-016 III:1 M/+ III:2 +/+ IV:3 M/+ 9 6 1 1 4 2 1 8 6 1 2 2 2 6 4 3 2 2 2 3 3 11 9 3 4 1 4 1 4 3 2 2 2 3 3 9 6 1 1 4 2 1 W04-262 II:10 II:11 M/+ III:17 +/+ III:19 M/+ 10 6 1 1 4 2 1 9 5 3 1 3 1 3 1 2 1 1 3 2 3 9 5 3 1 3 1 3 1 2 1 1 3 2 3 10 6 1 1 4 2 1 W08-1421 IV:1 +/+ IV:2 M/+ V:1 M/+ 8 3 1 1 4 1 1 5 3 2 2 2 3 1 1 1 1 4 1 4 3 8 3 1 1 4 1 1 W15-0495 II:6 II:7 M/+ III:9 M/+ III:10 +/+ 5 1 1 1 4 2 1 2 2 2 1 3 2 3 5 1 1 1 4 2 1 8 5 1 1 3 2 1 2 2 2 1 3 2 3 6 2 1 3 1 3 2 W18-0470 II:1 II:2 M/+ III:1 M/+ III:3 M/+ 8 7 1 1 3 2 1 8 7 1 1 3 2 1 1 6 1 2 2 3 3 8 7 1 1 3 2 1 8 6 1 1 3 3 1 9 5 1 1 4 1 5 Marker D6S276 D6S2439 D6S1554 D6S1571 D6S1545 D6S1281 D6S1621 Mb 24.19 24.31 24.84 24.96 24.98 25.30 25.50 Marker D6S276 D6S2439 D6S1554 D6S1571 D6S1545 D6S1281 D6S1621 Mb 24.19 24.31 24.84 24.96 24.98 25.30 25.50 W18-0471 I:1 M/+ 8 6 1 1 4 2 1 10 6 2 2 2 1 3 W18-0472 I:1 M/+ 5 2 1 1 4 2 1 5 6 4 2 2 1 2 W18-0473 I:1 M/+ 8 3 1 1 4 1 2 9 4 4 2 3 3 1 W18-1004 I:1 M/+ I:2 +/+ II:1 M/+ 9 4 1 4 1 2 1 5 1 1 1 4 2 1 5 1 1 1 4 2 1 8 9 3 1 4 3 1 W18-1005 I:1 M/+ 5 3 1 1 4 2 3 7 1 3 1 3 4 4 W18-1160 I:1 M/+ 5 3 1 1 4 1 2 8 2 2 1 3 1 3 W18-1004: I:1 Position (bp) 24,185,805 24,306,692 24,843,752 24,964,249 24,983,204 25,296,948 25,495,470 Marker D6S276 D6S2439 D6S1554 D6S1571 D6S1545 D6S1281 D6S1621 5 1 1 1 4 2 1 9 6 1 1 4 2 1 10 6 1 1 4 2 1 8 3 1 1 4 1 1 5 1 1 1 4 2 1 8 7 1 1 3 2 1 5 3 1 1 4 2 3 5 1 1 1 4 2 1 8 3 1 1 4 1 1 5 2 1 1 4 2 1 10 6 1 1 4 2 1 5 3 1 1 4 1 2 W97-056: IV:25 W02-016: IV:3 W04-262: III:19 W08-1421: V:1 W15-0495: III:9 W18-0470:III:3 W18-1160 W18-1005 W18-0473 W18-0472 W18-0471 B A Figure S3. Family pedigrees with genotypes and haplotypes of VNTR markers. (A) The shared haplotype is marked in grey. For marker D6S1545 (light-grey), a different CA-repeat length was determined in one family, but themarker is considered to be potentially part of the shared haplotype as a change of repeat length cannot be excluded. Markers for which the phase of the alleles could conclusively be determined via segregation in the family are marked in bold. The RIPOR2 c.1696_1707del variant is located between the markers D6S2439 and D6S1554. Genomic positions (bp) are according to the UCSC Genome Browser (GRCh37/hg19). (B) The haplotypes carrying the RIPOR2 c.1696_1707del variant are shown in red. A haplotype of 1.1 Mb was found to be shared (boxed) and is delimited by the markers D5S1554 and D6S1545. Alleles for which the parent of origin could conclusively be determined are marked in bold.