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Results of mutation analysis of the HPS1, HPS3, TYR, and OCA2/P genes in 229 Puerto Ricans with albinism
| Genotype | Number | Percentage of total |
|---|---|---|
| Homozygous HPS1 16-bp duplication | 98 | 42.8 |
| Heterozygous HPS1 16-bp duplication | 11 | 4.8 |
| Homozygous HPS3 3,904-bp deletion | 39 | 17.0 |
| Heterozygous HPS3 gene 3,904-bp deletion | 2 | 0.9 |
| Homozygous TYR G47D mutation | 7 | 3.0 |
| Homozygous OCA2/P gene 2.7-kb deletion | 3 | 1.3 |
| Heterozygous OCA2/P gene 2.7-kb deletion | 14 | 6.1 |
| Unidentified mutation | 55 | 24.0 |
| Total | 229 | 100 |
