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: T C Falik-Borenstein, S A Holmes, Z Borochowitz, A Levin, A Rosenmann, R A Spritz
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 15 Issue 4 Pg. 345-9 (Apr 1995) ISSN: 0197-3851 [Print] England
• PMID: 7617575 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Nucleic Acid Heteroduplexes
• Monophenol Monooxygenase

Topics

• Albinism, Oculocutaneous (diagnosis, genetics)
• Amino Acid Sequence
• Base Sequence
• DNA Mutational Analysis
• Female
• Genetic Carrier Screening (methods)
• Genetic Linkage
• Humans
• Molecular Sequence Data
• Monophenol Monooxygenase (deficiency, genetics)
• Mutation
• Nucleic Acid Heteroduplexes (analysis)
• Polymerase Chain Reaction
• Pregnancy
• Prenatal Diagnosis (methods)
• X Chromosome