Statistical profiles from the analysis of patient no. 7 carrying the CFTRdele17a–17b deletion from multiplex PCR 2 (MP 2) and 3 (MP 3)
| Height value | Dosage quotient | |||
|---|---|---|---|---|
| Patient no. 7 | Control male | DSCR1exon 4 | F9exon 5 | |
| The DQ values indicative of the 17a–17b deletion pattern are underlined. | ||||
| From our study, values of the DQ were within the range 0.75–1.31 (mean 0.95) for normal control samples, 0.38–0.64 (mean 0.48) for a heterozygous deletion control, and 1.40–1.79 (mean 1.55) for a heterozygous duplication control. They were concordant with those obtained by Yau et al.20 | ||||
| As an example (indicated in bold characters), the DQ for CFTR exon 17a compared to DSCR1 exon 4 is DQ17a/DSCR1 = Patient (CFTR 17a/DSCR1)/Control (CFTR 17a/DSCR1) = (827/565)/(1292/461) = 0.52. | ||||
| Reference gene | ||||
| DSCR1 exon 4 | 565 | 461 | – | 0.98 |
| F9 exon 5 | 502 | 400 | 1.02 | – |
| CFTR exon | ||||
| Exon 16 (MP 2) | 1156 | 1006 | 0.94 | 0.92 |
| Exon 17a (MP 3) | 827 | 1292 | 0.52 | 0.51 |
| Exon 17b (MP 3) | 360 | 690 | 0.43 | 0.42 |
| Exon 18 (MP 3) | 1052 | 827 | 1.04 | 1.01 |