Table 1.
Shared haplotypes in Scottish families with common ancestry (modified from Supplementary Material of Reference [9].
| Marker loci | Position | Families | ||
|---|---|---|---|---|
| 4–10 | 2 | 18 | ||
| Assembly GRCh37/hg19 | Alleles | |||
| D9S119 | 95867389-95867529 | 1 | 1 | 1 |
| D9S197 | 95875618-95875968 | 2 | 2/4 * | 2 |
| D9S196 | 95906010-95906446 | 5 | 4/5 * | 5 |
| ZNF169CA | 96264697-96265065 | 8 | 8 | 8 |
| FBP1 (GA) | 96474007-96474379 | 2 | 2 | 1/2 * |
| AFM070xb11 | 97021578-97065291 | 1 | 1 | 1 |
| AFM086yf1 | 97365423-97402531 | 1 | 1 | 1 |
| D9S280 | 97365423-97344962 | 2 | 2 | 2 |
| FANCC CA Intr2 | 97912205-98079991 | 2/3 * | 2 | 2/4 * |
| FANCC EcoRI | 97912205-98079991 | 2 | 1/2 * | 2 |
| FANCC CA Intr1 | 97912205-98079991 | 1 | 1 | 1 |
| AFM203WH8 * | 98073744-98074099 | 1 | 1 | 1 |
| PTC INT5 | 98205266-98270831 | T | T | T |
| PTC INT9 | 98205266-98270831 | C | C | C |
| PTC INT10 | 98205266-98270831 | G | G | G |
| D9S1816 | 98276797-98277080 | 5 | 5 | 5/8 * |
| D9S287 | 98466090-98466414 | 3 | 3 | 3 |
| AFMa350xgi | 98544811-98545188 | 2 | 2 | 2 |
| D9S1809 | 98558557-98558805 | 5 | 5 | 5 |
| AFM023xh8 | 99032436-99032712 | 1 | 1/2 * | 1 |
| D9S1851 | 99570721-99571084 | 2 | 2 | 2 |
| XPA (MspI) | 100437192-100459691 | A | G | G |
| D9S180 | 100649474-100649706 | 1 | 2 | 2 |
| D9S6 | 100931590-100931609 | A2 | A1 | A1 |
| D9S173 | 101890198-101916471 | 2 | 4 | 2/4 * |
| D9S176 | 102058162-102058520 | 7 | 3/5 * | 5 |
| TGFBR1 | 103142351-103142640 | p.(G52R) | p.(N45S) | p.(R414X) |
| ALDOB | 104182842-104198062 | 1 | 1 | 1/2 * |
| D9S109 | 105566169-10556648 | 2 | 3 | 6 |
The dark shaded boxes indicate contiguous groups of markers defining the shared 4 Mb chromosome 9q22.3 haplotype conserved between families 2,4,5,6,7,8,9,10 and 18 and the 9.9 Mb haplotype shared by families 4–10. The family numbers are from Reference [9]. The lighter shaded box indicates the location of the TGFBR1 gene within the larger 9.9 Mb haplotype and shows the different TGFBR1 mutations found in each family or group of families. * For loci where an unfavorable family structure precluded unambiguous identification of which allele was segregating with the condition, both alleles shared by affected family members are shown.