CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS

我们试图确定一个或多个基因的起源重要的一些 人类遗传性视网膜退化的形式。 对于这个项目，我们 已经从1300多名患有某种形式的 遗传性视网膜疾病，特别强调患者 常染色体显性、常染色体隐性或“孤立”形式的视网膜炎 色素沉着。 包括在此集合中的受影响和不受影响 有两个或多个受影响个体的多个家系的亲属。 据我们所知，这些藏品是一个无与伦比的基因 从这组血液样本中提取的材料（DNA）将允许研究 旨在确定与这些疾病有关的基因， 表征作用机制、祖先起源和DNA序列 负责的突变。 我们希望进行的实验是基于“候选基因 方法”。 我们假设，一个编码结构或功能的基因， 在光感受器生理学中重要的功能蛋白质可能是 患者中光感受器生理学的缺陷或缺失可能 视网膜色素变性患者或其他 遗传性视网膜变性 与这些基因相对应的基因 候选蛋白质，如感光细胞间类视色素结合蛋白， 各种转导亚单位，环GMP磷酸二酯酶亚单位，S- 抗原，线粒体蛋白质和视紫红质，已被其他分离 研究人员或项目实验室。 我们打算用分子 遗传学技术，以确定是否一个或多个基因的突变， 候选基因在某些遗传性视网膜变性中起作用。

We seek to identify one or more genes important in the genesis of some forms of hereditary retinal degeneration in humans. For this project, we have obtained blood samples from over 1300 patients with some form of inherited retinal disease, with particular emphasis on patients with autosomal dominant, autosomal recessive, or the "isolate" form of retinitis pigmentosa. Included in this collection are affected and unaffected relatives from a number of pedigrees with two or more affected individuals. This collection is, to the best of our knowledge, an unrivaled genetic material (DNA) derived from this set of blood sample will allow studies aimed at identifying the genes involved in these diseases and subsequently characterizing the mechanism of action, ancestral origin, and DNA sequence of the responsible mutations. The experiments that we wish to perform are based on the "candidate gene approach". We hypothesize that a gene coding for a structural or a functional protein important in the physiology of photoreceptors may be defective or absent in patients in the physiology of photoreceptors may be defective or absent in patients with retinitis pigmentosa or other inherited retinal degenerations. The genes corresponding to some of these candidate proteins, such as interphotoreceptor retinoid-binding protein, various transducing subunits, subunits of cyclic-GMP phosphodiesterase, S- antigen, mitochondrial proteins, and rhodopsin, have been isolated by other investigators or by the project laboratory. We intend to use molecular genetics techniques to determine whether mutations of one or more of the candidate genes play a role in some hereditary retinal degeneration.