Table 2.
Biospecimens and results of routine genetic analyses
| Sample ID | Patient ID | Biospecimens for genomic DNA isolation | Southern blot (kb) | Bisulfite sequencing | Variant in SMCHD1 | |||
|---|---|---|---|---|---|---|---|---|
| RU | EcoRI with P13E-11 probe | EcoRI/BlnI with P13E-11 probe | HindIII with 4qA probe | Methylation rate (%) | ||||
| 1 | P1 | PBL | 1 | 10 | 7 | 17 | 54 | Not analyzed |
| 2 | P2 | PBL | 2 | 13 | 10 | 20 | Not analyzed | Not analyzed |
| 3 | P3 | PBL | 3 | 17 | 14 | 24 | Not analyzed | Not analyzed |
| 4 | P4 | PBL | 4 | 20 | 17 | 27 | Not analyzed | Not analyzed |
| 5 | P5 | PBL | 5 | 23 | 20 | 30 | Not analyzed | Not analyzed |
| 6 | P1 | Fibroblasts | – | Not analyzed | Not analyzed | Not analyzed | Not analyzed | Not analyzed |
| 7 | P6 | PBL | – | Undetected | Undetected | Undetected | 14.8 | c.1040+1G>A (heterozygous) |
| 8 | P7 | PBL | – | Undetected | Undetected | Undetected | 9.0 | c.3274_3276+1delAAAG (heterozygous) |
| 9 | P8 | PBL | 3 or 4? | 17 | 17 | Undetected | Not analyzed | Not analyzed |
| 10 | P9 | PBL | 2 or 5? | 23 | 10 | 30 | 38.1 | Not analyzed |
| 11 | P10 | PBL | 4 or 5? | 20 | 20 | 40 | Not analyzed | Not analyzed |
| 12 | P11 | PBL | 4 or 5? | 20 | 20 | Undetected | 35.4% | Not analyzed |
| 13 | P12 | PBL | 2 or 6 | 13 | 10 | 34 | Not analyzed | Not analyzed |
| 14 | P13 | PBL | 2 or 3? | 13 | 13 | 32 | 44.0% | Not analyzed |
| 15 | P14 | PBL | 3? | 17 | 13 | 24 | Not analyzed | Not analyzed |
PBL peripheral blood lymphocytes