Article
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A).
Prenatal diagnosis - 1 Apr 1995
Falik-Borenstein T C, Holmes S A, Borochowitz Z, Levin A, Rosenmann A, Spritz R A
Abstract excerpt
We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should...
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