title: DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A).
abstract: 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 become the method of first choice for prenatal diagnosis of OCA1.
authors.affiliation: Bnai Zion Medical Center, Technion Faculty of Medicine, Haifa, Israel.
authors.forename: T C
authors.initials: TC
authors.lastname: Falik-Borenstein
authors.forename: S A
authors.initials: SA
authors.lastname: Holmes
authors.forename: Z
authors.initials: Z
authors.lastname: Borochowitz
authors.forename: A
authors.initials: A
authors.lastname: Levin
authors.forename: A
authors.initials: A
authors.lastname: Rosenmann
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014960:X Chromosome
chemical_list: D009692:Nucleic Acid Heteroduplexes; D014442:Monophenol Monooxygenase