Table 2.
Phased haplotypes of the eleven patients who carry the TGM1: c.1187G > A mutation for the 10 STR markers. Some patients are homozygous carriers (Hom; two haplotypes represented) and some are heterozygous carriers (Het; one haplotype represented.
| Patient | Haplotypes ID | STR MARKERS | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D14S72 | D14S1043 | D14S742 | D14S581 | D14S64 | Mutation | D14S264 | D14S1032 | D14S275 | D14S1042 | D14S1060 | ||
| FAM 1 A (III:2) | h1 (ECU/ECU) | 2 | 5 | 3 | 3 | 8 | HET | 9 | 9 | 4 | 4 | 6 |
| FAM 5E (III:1) | h2 (ECU/ECU) | 2 | 5 | 3 | 3 | 8 | HOM | 9 | 9 | 4 | 4 | 6 |
| h3 (ECU/ECU) | 2 | 5 | 3 | 3 | 8 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 25E (IV:1) | h4 (ECU/ECU) | 2 | 5 | 4 | 1 | 8 | HOM | 9 | 9 | 4 | 4 | 6 |
| h5 (ECU/ECU) | 2 | 5 | 4 | 1 | 8 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 27E (III:3) | h6 (ECU/ECU) | 7 | 5 | 1 | 3 | 8 | HOM | 9 | 9 | 4 | 4 | 6 |
| h7 (ECU/ECU) | 7 | 5 | 3 | 3 | 8 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 17E (IV:3) | h8 (ECU/ECU) | 7 | 5 | 3 | 2 | 5 | HOM | 9 | 9 | 8 | 4 | 10 |
| h9 (ECU/ECU) | 2 | 5 | 3 | 3 | 8 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 17E (IV:5) | h10 (ECU/ECU) | 7 | 2 | 2 | 2 | 5 | HOM | 9 | 7 | 8 | 10 | 4 |
| h11 (ECU/ECU) | 7 | 5 | 3 | 3 | 8 | 9 | 9 | 3 | 4 | 6 | ||
| FAM 17E (V:1) | h12 (GAL/GAL) | 7 | 4 | 3 | 2 | 5 | HOM | 9 | 8 | 4 | 4 | 4 |
| h13 (GAL/GAL) | 8 | 4 | 4 | 2 | 5 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 17E (IV:29) | h14 (GAL/GAL) | 8 | 6 | 3 | 2 | 5 | HOM | 9 | 9 | 4 | 4 | 5 |
| h15 (?/GAL) | 8 | 6 | 3 | 2 | 5 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 17E (IV:24) | h16 (ECU/GAL) | 7 | 2 | 3 | 2 | 5 | HOM | 9 | 6 | 8 | 4 | 6 |
| h17 (ECU/ECU) | 8 | 5 | 3 | 2 | 5 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 11E (IV:1) | h18 (ECU/GAL) | 7 | 2 | 3 | 2 | 5 | HOM | 9 | 6 | 8 | 6 | 6 |
| h19 (ECU/ECU) | 7 | 5 | 3 | 3 | 8 | 9 | 9 | 4 | 4 | 6 | ||
| FAM 24E (III:6) | h20 (ECU/ECU) | 7 | 5 | 3 | 2 | 5 | HET | 9 | 7 | 4 | 4 | 4 |
| Galician haplotype | – | 7 | 5 | 3 | 2 | 4 | HET | 6 | 8 | 6 | 8 | 8 |
The Galician c.1187G > A carrier haplotype is also included. The inferred ancestral origin of the Ecuadorian haplotypes (see text) is indicated in column “Haplotype ID” in brackets (PCA-QDA/SVM classification); GAL = most likely Galician origin; ECU = most likely Ecuadorian origin. It was not possible to infer the origin of h15 using PCA-QDA because the higher probability of classification was below to 0.75.