Table 9 Results of real time quantitative PCR analysis on 10 CNV/SV regions predicted by NGS to be unshared between twins
Gene/region | Chr | Start | End | Size (bp) | Family | Type | NGS prediction | Real time result in affected twin | Difference between twins? | Buccal DNA |
|---|---|---|---|---|---|---|---|---|---|---|
GABRD | 1 | 825765 | 5726936 | 4,901,171 | 1 | SV | Increase | 2.62 | ✔ | Yes (2.65) |
CLSTN2 | 3 | 139670597 | 139674454 | 3857 | 2 | SV | Increase | 1.16 | ✔ | No (1.64) |
OPRM1 | 6 | 154446930 | 154447253 | 323 | 2 | SV | Decrease | 2.15 | ✗ | N/A |
STX1A | 7 | 66193913 | 73382120 | 7,188,207 | 1 | SV | Decrease | 2.75 | ✔ | No (1.98) |
12q24.21 | 12 | 114521470 | 114529470 | 8000 | 2 | CNV | Increase | 1.33 | ✔ | Yes (0.82) |
ANKS1B | 12 | 99793948 | 99802771 | 8823 | 1 | SV | Decrease | 1.9 | ✗ | N/A |
15q11.2 | 15 | 22422114 | 22492114 | 70,000 | 1 | CNV | Increase | 2.69 | ✔ | Yes (2.58) |
CES1 | 16 | 55841801 | 55855801 | 14,000 | 1 | CNV | Increase | 1.56 | ✗ | N/A |
16p11.2 | 16 | 34467150 | 34515150 | 48,000 | 1 | CNV | Increase | 1.8 | ✗ | N/A |
PLTP | 20 | 44535505 | 44535941 | 436 | 1 | SV | Decrease | 2.1 | ✗ | N/A |