Spritz R A
Department of Medical Genetics, University of Wisconsin, Madison 53706.
Semin Dermatol. 1993 Sep;12(3):167-72.
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from deficient enzymatic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway. Type II (tyrosinase-positive) OCA results from abnormalities of the "P" polypeptide. Recent application of molecular genetic techniques to the study of these disorders has led to extraordinary advances in knowledge of their molecular pathogenesis, paving the way to improved diagnosis, carrier detection, and even treatment.
眼皮肤白化病（OCA）是一组常染色体隐性疾病，其特征为黑色素合成不足。I型（酪氨酸酶缺乏型）OCA是由于酪氨酸酶的酶活性不足所致，酪氨酸酶在黑色素生物合成途径中催化至少三个步骤。II型（酪氨酸酶阳性型）OCA是由“P”多肽异常引起的。最近将分子遗传学技术应用于这些疾病的研究，在其分子发病机制的认识上取得了非凡进展，为改进诊断、携带者检测乃至治疗铺平了道路。
