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 d...
Topics
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Monophenol Monooxygenase
- Mutation
- Nucleic Acid Heteroduplexes
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- X Chromosome