ALBINISM

这个项目的目的是调查临床， 眼科学、血液学、流行病学、生化和 人类色素遗传缺陷的分子特征 形成，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方法 准确的诊断、治疗和家庭咨询，使这些 遗传病是可以预防、治疗或改善的。 白化病的临床和流行病学研究 赫尔曼斯基-普德拉克综合征将在波多黎各进行。 疾病的自然病史将被阐明，包括 色素性和眼部改变，发病率和 因储存类稀土物质而导致的死亡率 在肾脏、肺、心脏和胃肠道。这个 在调节机制和膜上的缺陷 Hermansky-Pudlak综合征患者的血小板和血细胞 Chediak-Higashi综合征和其他遗传性色素疾病 将会被调查。存储池之间的关系 不足和色素减退将被分析。 生物化学和分子研究将提供方法 对白化病发病机制的准确诊断和洞察。 多巴色素氧化还原酶将被提纯并鉴定， 而这种酶在色素调节中的作用将是 分析过了。酪氨酸酶基因将被分离并正常 突变基因将会被描述出来。中国的视觉功能研究 将开展白化病目测和治疗方法 对教育干预进行了分析。硫氧还蛋白的作用 还原酶在白癜风氧自由基防御中的作用 下定决心。

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.