Table 2 Fold copy number change (ΔKCt) for the 12 22q11DS patients, 22q11 Duplication and 4 controls. ΔKCt values of 0 ± 0.35 indicate an equal ratio of the target and reference, which corresponds to no loss and therefore no genetic abnormality, values of -1 ± 0.35 indicate loss of one copy (microdeletion), whilst values of 1 ± 0.35 (seen for the trisomy 22 patient) indicate gain of one copy (microduplication).
From: A method for accurate detection of genomic microdeletions using real-time quantitative PCR
Sample Types | Samples | qPCR Primers of the 22q11.2 DS Region | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Â | Â | D22S181 | PRODH | TUPLE1 | COMT | ZNF74 | PIK4 | LZTR1 | CAT4 | D22S936 | VPREB1 |
|  |  | Fold copy number change (ΔKCt) | |||||||||
Normal Controls | 1 | -0.1601 | 0.2039 | 0.1716 | 0.1273 | 0.0744 | 0.1097 | -0.1598 | 0.0175 | -0.2195 | 0.1782 |
| Â | 2 | 0.0881 | -0.0115 | -0.0703 | -0.0045 | -0.0744 | -0.1421 | 0.0538 | -0.1002 | -0.0327 | 0.1738 |
| Â | 3 | -0.0802 | -0.1322 | -0.0202 | 0.0471 | 0.1633 | 0.0211 | 0.1497 | -0.1193 | 0.1580 | -0.1393 |
| Â | 4 | -0.2727 | -0.0602 | -0.0812 | -0.1700 | 0.2048 | 0.0113 | -0.2035 | -0.1173 | -0.1508 | -0.2128 |
22q11DS Tuple1 Deleted | 1 | -0.2006 | -1.2337 | -1.2173 | -0.9261 | -1.2366 | -1.1903 | -0.9009 | -1.1467 | -1.1305 | 0.0140 |
| Â | 2 | 0.1987 | -1.1857 | -1.2806 | -1.1102 | -0.8132 | -0.9187 | -1.2182 | -0.8644 | -1.1021 | -0.0667 |
| Â | 3 | -0.0035 | -1.2003 | -1.1671 | -1.2660 | -1.0857 | -1.2183 | -0.8808 | -1.1124 | -1.3388 | -0.3315 |
| Â | 4 | -0.0387 | -1.2372 | -1.2534 | -1.2976 | -0.9337 | -1.1139 | -1.1951 | -0.9513 | -0.9711 | 0.0759 |
| Â | 5 | -0.2601 | -0.9173 | -1.1538 | -0.9330 | -0.9639 | -0.9715 | -1.2522 | -1.0367 | -1.1721 | 0.1191 |
| Â | 6 | 0.0158 | -1.0541 | -1.1710 | -0.8799 | -0.9787 | -0.9763 | -1.0172 | -0.9620 | -1.3164 | 0.1496 |
22q11DS Tuple1 Not-Deleted | 1 | 0.0670 | -0.1259 | 0.0717 | -0.1508 | 0.2653 | -0.0241 | -0.1144 | -0.1205 | 0.0881 | 0.0140 |
| Â | 2 | -0.0325 | -0.0797 | -0.1033 | -0.1055 | 0.1414 | -0.0507 | -0.1921 | -0.1158 | -0.0905 | -0.0667 |
| Â | 3 | -0.1568 | -0.0003 | 0.1309 | -0.1154 | 0.1521 | -0.0615 | -0.0400 | 0.1025 | 0.1660 | -0.3315 |
| Â | 4 | -0.0737 | -0.1425 | 0.0046 | 0.0205 | 0.2222 | -0.0246 | -0.1283 | 0.1719 | 0.1093 | 0.0759 |
| Â | 5 | 0.1166 | 0.0283 | -0.0596 | 0.1068 | 0.1951 | -0.0478 | -0.1887 | 0.1936 | 0.0282 | 0.1191 |
| Â | 6 | -0.0508 | 0.1578 | 0.0755 | 0.0324 | 0.1366 | -0.0066 | 0.0569 | 0.1882 | 0.0900 | 0.1496 |
22q11 Duplication Sample | -0.0124 | 1.1855 | 0.9201 | 0.9303 | 1.0121 | 0.9377 | 1.0648 | 0.9637 | 1.0250 | -0.1863 | |