Table 1. Estimated percentage of cells with UPD calculated for each STR markers (a), methylation index calculated by MS–MLPA (b), MS–HRM (c) and pyrosequencing (d) for each patient.
| a | ||||||
|---|---|---|---|---|---|---|
| STR markers | ||||||
| Patient | D11S4046 | D11S1318 | D11S4088 | D11S1338 | D11S1346 | TH01 |
| UPD 1 | 85.77% | 82.01% | 77.77% | 53.49% | — | 89.38% |
| UPD 2 | 16.82% | 47.91% | 31.82% | 48.47% | 50.52% | 37.52% |
| UPD 3 | — | 57.44% | 21.49% | — | 51.23% | 41.39% |
| UPD 4 | 74.14% | 73.08% | 73.62% | 51.26% | 67.87% | 64.08% |
| UPD 5 | 33.35% | 45.58% | 40.59% | — | 74.83% | 63.51% |
| UPD 6 | 81.70% | 66.48% | 31.26% | — | 9.07% | 36.31% |
| UPD 7 | 12.93% | 28.35% | 32.39% | 22.79% | — | — |
| UPD 8 | 50.19% | — | 63.11% | 50.46% | 53.73% | 49.17% |
| UPD 9 | 58.78% | 38.82% | 73.84% | 37.68% | 45.54% | — |
| b | c | d | ||||
| MS–MLPA | MS–HRM | CpG Q-Pyro | ||||
|
Patient |
H19DMR 1 |
KvDMR |
H19DMR |
KvDMR |
H19DMR |
KvDMR |
| UPD 1 | 114.77% | 8.89% | 60.98% | 24.19% | 90.61% | 10.96% |
| UPD 2 | 81.25% | 31.70% | 46.01% | 48.91% | 73.15% | 27.94% |
| UPD 3 | 59.81% | 42.76% | 46.17% | 53.24% | 64.80% | 28.31% |
| UPD 4 | 79.99% | 21.38% | 50.41% | 40.36% | 86.78% | 20.50% |
| UPD 5 | 73.47% | 23.22% | 50.84% | 36.46% | 79.22% | 18.59% |
| UPD 6 | 69.27% | 33.98% | 51.99% | 50.68% | 72.07% | 26.05% |
| UPD 7 | 70.32% | 42.05% | 44.37% | 48.52% | 67.75% | 29.13% |
| UPD 8 | 69.09% | 34.47% | 52.41% | 45.96% | 74.26% | 28.34% |
| UPD 9 | 86.18% | 35.85% | 51.89% | 50.48% | 73.26% | 22.99% |
| Controls' mean | 50.26% | 54.69% | 39.64% | 59.67% | 52.11% | 40.68% |
| SD | 7.18% | 4.63% | 2.07% | 3.74% | 2.02% | 5.17% |
For the methylation analysis it has been calculated the normal methylation index as controls' mean value and SD, for each technique.