Table 2. Haplotype Analysis of Pedigrees OA-3, OA-4 and OA-5.
| Location | OA-3, 111-3 | OA-4, III-1 | OA-4, III-2 | OA-5, I-1 | OA-5, II-3 | OA-5, III-1 | Haplotype |
|---|---|---|---|---|---|---|---|
| Exon 4 | c.473A>G | c.473A>G | c.473A>G | c.473A>G | c.473A>G | c.473A>G | c.473A>G |
| Intron 4 | c.557-19t>c | c.557-19t>c | c.557-19t>c | ||||
| Exon 5 | c.575C>T | ||||||
| Intron 8 | c.870+4c>t | c.870+4c>t | c.870+4c>t | c.870+4c>t | c.870+4c>t | c.870+4c>t | c.870+4c>t |
| Intron 8 | c.870+32t>c | c.870+32t>c | c.870+32t>c | ||||
| Exon 9 | c.876-878delTGT | ||||||
| Intron 11 | c.1141-55t>a | ||||||
| Intron 14 | c.1443+23g>a | ||||||
| Exon 17 | c.1608A>C | ||||||
| Intron 18 | c.1770+16t>g | c.1770+16t>g | |||||
| Intron 18 | c.1770+51t>g | c.1770+51t>g | c.1770+51t>g | ||||
| Exon 21 | c.2109C>T | c.2109C>T | c.2109C>T | c.2109C>T | c.2109C>T | c.2109C>T | c.2109C>T |
| Intron 26 | c.2707+25t>a | c.2707+25t>a | c.2707+25t>a |
Homozygous OPA1 SNPs are highlighted in blue and OPA1 mutations are highlighted in red.