Falik-Borenstein T C, Holmes S A, Borochowitz Z, Levin A, Rosenmann A, Spritz R A
Bnai Zion Medical Center, Technion Faculty of Medicine, Haifa, Israel.
Prenat Diagn. 1995 Apr;15(4):345-9. doi: 10.1002/pd.1970150408.
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.
我们描述了两个家庭中酪氨酸酶阴性眼皮肤白化病（OCA1A）的分子产前诊断和携带者检测。在一个家庭中，我们进行了基于DNA的OCA1A产前诊断。在另一个家庭中，突变分析和携带者检测使得产前诊断不再必要。分子分析比胎儿镜检查和胎儿头皮活检更安全，可能也更准确，应该成为OCA1产前诊断的首选方法。
