DNA‐based carrier detection and prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism (OCA1A)
- 1 April 1995
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 15 (4) , 345-349
- https://doi.org/10.1002/pd.1970150408
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.Keywords
This publication has 7 references indexed in Scilit:
- Molecular genetics of oculocutaneous albinismHuman Molecular Genetics, 1994
- Prenatal Diagnosis of Oculocutaneous Albinism by Analysis of the Fetal Tyrosinase GeneJournal of Investigative Dermatology, 1994
- Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skinPrenatal Diagnosis, 1994
- Molecular basis of type I (tryrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase geneHuman Mutation, 1993
- Prenatal diagnosis of tyrosinase-negative oculocutaneous albinismThe Lancet, 1992
- Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinismJournal of the American Academy of Dermatology, 1991
- Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal SkinJournal of Investigative Dermatology, 1983