DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A) |
| |
| Authors: | Tzipora C Falik-Borenstein MD Stuart A Holmes Zvi Borochowitz Abi Levin A Rosenmann Richard A Spritz |
| |
| Institution: | 1. Departments of Medical Genetics and Pediatrics, University of Wisconsin, Madison, Wisconsin, U.S.A.;2. Bnai Zion Medical Center, Technion Faculty of Medicine, Haifa, Israel;3. Hadasa Ein Karem Medical Center, Jerusalem |
| |
| 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: | oculocutaneous albinism tyrosinase prenatal diagnosis |
|
|
