Table 3.
Sequences of the primers used for quantifying the number of copies of 5q35.2-5q35.3, along with coordinates for each amplified genomic region (HG18), its relative position with regard to the start point of the duplication, and the number of copies detected in the proband
| Primer name | Primer sequence | Chromosomal band | Coordinates of the amplicon (HG18) | No of copies detected in the proband | Position of the amplicon in ref. to the start of the duplication |
|---|---|---|---|---|---|
| 5q35.2_A1_F |
AACAGGCTCACGCCTTCTTA |
5q35.2 |
175182611 - 175182696 |
2 |
- 61 kb |
| 5q35.2_ A1_R |
GAAGCACCCAACACATCCTT |
||||
| 5q35.2_ A2_F |
CCTTACCAGCAGGGACACAT |
5q35.2 |
175201237 - 175201316 |
2 |
- 42 kb |
| 5q35.2_ A2_R |
CATGGCCCTCCTACACATCT |
||||
| 5q35.3_B1_F |
GTGGAATGATCACGATGCTG |
5q35.3 |
175286270 - 175286357 |
3 |
+ 43 kb |
| 5q35.3_ B1_R |
TGCACAGTCCAACAGACACA |
||||
| 5q35.3_ B2_F |
CTGCTCAGCGGGATCTATGT |
5q35.3 |
176356609 - 176356696 |
3 |
+ 1,12 Mb |
| 5q35.3_ B2_R |
TCAAGTCTGCCCCAACTCTT |
||||
| 5q35.3_ B3_F |
CCAATCCTGGCATGAGACTT |
5q35.3 |
179355063 - 179355146 |
3 |
+ 4,12 Mb |
| 5q35.3_ B3_R | GCAAACTGTGTGGGAATCCT |