DNA-BASED CARRIER DETECTION AND PRENATAL-DIAGNOSIS OF TYROSINASE-NEGATIVE OCULOCUTANEOUS ALBINISM (OCA1A)

We describe molecular prenatal diagnosis and carrier detection of tyro sinase-negative oculocutaneous albinism (OCA1A) in two families. In on e family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the ne ed for prenatal diagnosis. Molecular analysis is safer and probably mo re accurate than fetoscopy and fetal scalp biopsy, and should become t he method of first choice for prenatal diagnosis of OCA1.