ALBINISM

本项目的目的是调查临床， 眼科、血液学、流行病学、生化学和 人类色素遗传缺陷的分子特征 特别是眼皮肤白化病。 这些研究 将提供信息，我们希望这些信息将导致 准确的诊断，治疗和家庭咨询，使这些 可以预防、治疗或改善遗传疾病。 白化病的临床和流行病学研究 Hermansky-Pudlak综合征将在波多黎各进行。 将阐明疾病的自然史，包括 色素和眼部变化，以及发病率和 由类蜡物质的储存引起的死亡 肾脏肺心脏和胃肠道 的 调节机制和膜的缺陷， 赫-普二氏综合征中的血小板和血细胞 Chediak-Higashi综合征和其他遗传性色素障碍 将进行调查。 存储池与 将分析缺乏和色素减退。 生物化学和分子研究将提供方法， 准确诊断和深入了解白化病的机制。 多巴色素氧化还原酶将被纯化和表征， 这种酶在调节色素中的作用将是 分析了 酪氨酸酶基因将被分离和正常， 突变基因将被表征。 视觉功能研究 白化病将进行和方法的视觉和 教育干预分析。 硫氧还蛋白的作用 白癜风的治疗方法有哪些？ 测定

The aims of this project are to investigate the clinical, ophthalmologic, hematologic, epidemiologic, biochemical, and molecular features of genetic defects of human pigment formation, particularly oculocutaneous albinism. These studies will provide information which we hope will lead to methods of accurate diagnosis, therapy, and family counseling, so that these genetic diseases can be prevented, treated, or ameliorated. Clinical and epidemiologic studies of albinism and the Hermansky-Pudlak syndrome will be carried out in Puerto Rico. The natural history of the disease will be elucidated, including the pigmentary and ocular changes, and the morbidity and mortality which results from the storage of ceroid-like material in the kidneys, lungs, heart, and gastrointestinal tract. The defects in the regulatory mechanisms and membranes in platelets and blood cells in Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and other inherited pigment disorders will be investigated. The relationship between the storage pool deficiency and the hypopigmentation will be analyzed. Biochemical and molecular studies will provide methods for accurate diagnosis and insight into mechanisms of albinism. Dopachrome oxidoreductase will be purified and characterized, and the role of this enzyme in the regulation of pigment will be analyzed. The tyrosinase gene will be isolated and normal and mutant genes will be characterized. Visual function studies in albinism will be carried out and methods of visual and educational intervention analyzed. The role of thioredoxin reductase in oxygen radical defense in vitiligo will be determined.