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DNA‐based carrier detection and prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism (OCA1A)
Author(s) -
FalikBorenstein Tzipora C.,
Holmes Stuart A.,
Borochowitz Zvi,
Levin Abi,
Rosenmann A.,
Spritz Richard A.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150408
Subject(s) - fetoscopy , prenatal diagnosis , oculocutaneous albinism , tyrosinase , chorionic villi , mutation , medicine , chorionic villus sampling , albinism , pregnancy , genetics , fetus , biology , gene , enzyme , biochemistry
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.