The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
复制标题
I 型（酪氨酸酶缺乏）人类眼皮肤白化病的分子基础。
DOI：
10.1111/j.1600-0749.1990.tb00357.x
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发表时间：
1992
期刊：
影响因子：
--
通讯作者：
Spritz,RA
中科院分区：
文献类型：
--
作者：
Giebel,LB;Spritz,RA
眼皮肤白化病（OCA）是一组异质性的严重常染色体隐性色素沉着疾病，其特征是皮肤、毛囊和眼睛的色素细胞中黑色素合成减少或缺乏，伴有视力下降、眼球震颤和光敏性。由于引人注目的表型，眼皮肤白化病是最早认识到的遗传性疾病之一，其典型的临床特征、常染色体隐性遗传模式和遗传异质性即使在经典描述中也是显而易见的（1-3）。白化病动物皮肤中酪氨酸酶活性的缺乏最初于1904年被证实，早在1908年Garrod就提出白化病可能是一种先天性代谢缺陷
Oculocutaneous albinism (OCA) is an heterogeneous group of severe autosomal recessive disorders of pigmentation characterized by reduced or absent melanin synthesis in pigment cells of the skin, hair follicles, and eyes, with associated decreased visual acuity, nystagmus, and photosensitivity. Because of the striking phenotype, oculocutaneous albinism was one of the first genetic disorders recognized, and its typical clinical features, autosomal recessive mode of inheritance, and genetic heterogeneity are apparent even in classical descriptions (1-3). Deficiency in the activity of tyrosinase in the skin of albino animals was initially demonstrated in 1904 (4), and as early as 1908 Garrod suggested that albinism might be an inborn error of metabolism zyxwvutsrqponmlk