DNA‐based carrier detection and prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism (OCA1A)

Tzipora C. Falik‐Borenstein, Stuart A. Holmes, Zvi Borochowitz, Abi Levin, A. Rosenmann, Richard A. Spritz

Research output: Contribution to journalReview articlepeer-review

9 Scopus citations

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.

Original languageEnglish
Pages (from-to)345-349
Number of pages5
JournalPrenatal Diagnosis
Volume15
Issue number4
DOIs
StatePublished - Apr 1995
Externally publishedYes

Funding

FundersFunder number
National Institute of Arthritis and Musculoskeletal and Skin DiseasesR01AR039892

    Keywords

    • oculocutaneous albinism
    • prenatal diagnosis
    • tyrosinase

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