Table 3.
Haplotypes and clinical diagnosis of six individuals with no previously identified mutations in TYR Y: tyrosine, Q: glutamine, OCA: oculocutaneous albinism, AROA: autosomal recessive ocular albinism.
| Sample ID | rs1042602 (S192Y) | rs1126809 (R402Q) | rs147546939A > G | rs529135220G > C | Diagnosis |
|---|---|---|---|---|---|
| 22 | A/A (Y/Y) | A/A (Q/Q) | G/G | G/G | AROA |
| 57 | A/A (Y/Y) | A/A (Q/Q) | G/G | NA | AROA |
| 70 | A/A (Y/Y) | A/A (Q/Q) | G/G | NA | AROA |
| 96 | A/A (Y/Y) | A/A (Q/Q) | G/G | G/C | AROA |
| 262 | A/A (Y/Y) | A/A (Q/Q) | G/G | NA | OCA |
| 308 | A/A (Y/Y) | A/A (Q/Q) | G/G | G/C | AROA |