MOLECULAR-GENETICS OF OCULOCUTANEOUS ALBINISM
MOLECULAR-GENETICS OF OCULOCUTANEOUS ALBINISM
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DOI：
10.1093/hmg/3.suppl_1.1469
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发表时间：
1994-01-01
影响因子：
3.5
通讯作者：
SPRITZ, RA
中科院分区：
文献类型：
--
作者：
SPRITZ, RA
白化病是一组以黑色素合成不足为特征的遗传性疾病。在眼皮肤白化病（OCA）的色素缺乏涉及皮肤，头发和眼睛，而在眼白化病（OA）的缺陷主要涉及视觉系统。I型（酪氨酸酶缺乏型）OCA是由酪氨酸酶催化活性不足引起的，酪氨酸酶催化黑色素生物合成途径中的至少三个步骤。II型（酪氨酸酶阳性）OCA由“P”多肽异常引起，该多肽可能是黑素体酪氨酸转运蛋白。至少某些形式的OA似乎代表I型和II型OCA的轻度表现。其他几种形式的白化病的原因尚未确定。最近应用分子遗传学技术研究这些疾病，大大提高了他们的分子发病机制和关系的知识，并铺平了道路，以改善诊断，载体检测和产前诊断，甚至最终治疗。
Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from deficient catalytic 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, which may be a melanosomal tyrosine transporter. At least some forms of OA appear to represent mild presentations of types I and II OCA. The causes of several other forms of albinism have not yet been identified. Recent application of molecular genetic techniques to the study of these disorders has led to greatly improved knowledge of their molecular pathogenesis and relationships, and paves the way to improved diagnosis, carrier detection and prenatal diagnosis, and even to eventual treatment.