ADDENDUM TO USE OF HUMAN LENS MATERIAL FOR DETERMINING CAUSES OF CATARACTS

尽管一些继发性白内障的病因正在好转 被理解的和某些动物模型显示出阐明 晶状体蛋白与遗传性白内障的关系 已知人类先天性白内障的原因。到目前为止， 对不同的先天性白内障进行分类一直很麻烦，而且 不完美。我们将更好地理解白内障的发病机制。 了解眼睛晶状体的分子组成和 这些成分的损伤的表现方式， 在结构和功能上，如镜片的混浊。动物研究 已经表明晶状体晶体蛋白的改变可能导致遗传性 白内障，使其成为导致遗传性白内障的合理候选基因 人类的白内障。此外，很明显，遗传性病变 模仿已知的环境压力或增加环境压力 原因白内障可能是导致遗传性白内障的候选基因 白内障。这个项目的工作是为了集中精力 特别是先天性和遗传性白内障，并充分利用 为连锁分析开发的分子技术的优势。 对信息丰富的家庭进行的研究将包括采集血液 从可用的家庭成员中采集样本，并在可能的情况下分析 晶状体材料来自接受白内障手术的患者。

Although the etiologies of some secondary cataracts are becoming better understood and certain animal models show promise for elucidating the relationships between lens crystallin and hereditary cataract, little is known about the causes of congenital cataracts in humans. To date, the classification of different congenital cataracts has been cumbersome and imperfect. A better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested, structurally and functionally, as opacity of the lens. Animal studies have suggested that alterations in lens crystallins can cause hereditary cataracts, making them reasonable candidate genes for causing hereditary cataracts in humans. In addition, it is apparent that hereditary lesions that mimic or contribute additively to environmental stress known to cause cataracts might be candidate genes for causing hereditary cataracts. The work in this project is designed to concentrate specifically on congenital and hereditary cataracts and to take full advantage of molecular technology developed for linkage analysis. Studies performed on informative families will include collecting blood specimens from available family members and, when possible, analyzing lens material from patients who undergo cataract surgery.