Primer sets used for amplification of the single exon of the SOX2 gene_
| Primers | Sequences (5’>3’) | PCR Fragment Size (bp) |
|---|---|---|
| Sox2_1aF | CCT CTC TCT TTT TTT CCC C | 431 |
| Sox2_1bF | GCG GCA ACC AGA AAA ACA | 291 |
| Sox2 1cF | GCT CAT GAA GAA GGA TAA GT | 283 |
| Sox2 1dF | CAT GAA CGG CTG GAG CAA | 407 |
| Sox2_1eF | TTA CCT CTT CCT CCC ACT C | 286 |
Primer sets used for amplification of the promoter sequence of the SOX2 gene_
| Primers | Sequences (5’>3’) | PCR Fragment Size (bp) |
|---|---|---|
| 5’ F2 | AGT CCC GGC CGG GCC GAG | 602 |
| 3’ F | GGC GTG AAC CAG CGC ATG G | 612 |
| 5’UTR F | CGC TGA TTG GTC GCT AGA A | 518 |
| 3’UTR.1F | GGG GTG CAA AAG AGG AGA GTA | 490 |
| 3’UTR.2F | AAC ATG GCA ATC AAA ATG TCC | 514 |
| 3’UTR.3F | CCC CCT TTA TTT TCC GTA GTT | 353 |
List of short tandem repeat markers used for genotyping in clinical anophthalmia_
| Chromosome | Gene | STR Markers | Distance (cM) | Amplified Length (bp) |
|---|---|---|---|---|
| 14q32 | – | D14S617 | 91.0 | 141-173 |
| 14q24.3 | CHX10 | D14S588 | 71.0 | 117-141 |
| 18q21.3 | RAX | D18S858 | 54.9 | 193-208 |
| 14q21-22 | OTX2 | GATA168F06 | 92.6 | 212-232 |
| 3q26.3-q27 | SOX2 | D3S1565 | 190.3 | 239-245 |