Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
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DOI：
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发表时间：
1993-12
影响因子：
9.8
通讯作者：
R. K. Tripathi;S. Bundey;M. Musarella;S. Droetto;K. Strunk;S. A. Holmes;R. Spritz
中科院分区：
文献类型：
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作者：
R. K. Tripathi;S. Bundey;M. Musarella;S. Droetto;K. Strunk;S. A. Holmes;R. Spritz
眼皮肤白化病（OCA）是一组以黑色素合成缺陷为特征的常染色体隐性遗传疾病。 I 型（酪氨酸酶缺陷型）OCA 是由编码酪氨酸酶的酪氨酸酶基因（TYR 基因）突变引起的，酪氨酸酶催化黑色素生物合成的前两个步骤。 TYR 基因突变已在大量患有各种形式的 I 型 OCA 的患者中发现，其中大多数是白种人。在这里，我们对 8 名印巴 I 型 OCA 患者的 TYR 基因进行了分析。我们描述了四种新的 TYR 基因突变和先前在白人患者中观察到的第五种突变。
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. Here, we present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. We describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient.