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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Albinism, Oculocutaneous / diagnosis*
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Albinism, Oculocutaneous / genetics*
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Amino Acid Sequence
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Base Sequence
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DNA Mutational Analysis*
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Female
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Genetic Carrier Screening / methods*
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Genetic Linkage
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Humans
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Molecular Sequence Data
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Monophenol Monooxygenase / deficiency
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Monophenol Monooxygenase / genetics*
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Mutation
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Nucleic Acid Heteroduplexes / analysis
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Polymerase Chain Reaction
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Pregnancy
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Prenatal Diagnosis / methods*
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X Chromosome
Substances
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Nucleic Acid Heteroduplexes
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Monophenol Monooxygenase