Shiels Alan, Bennett Thomas M, Hejtmancik J Fielding
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.
Mol Vis. 2010 Oct 8;16:2007-15.
Lens opacities, or cataract(s), may be inherited as a classic Mendelian disorder usually with early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many genetic forms of cataract have been described in mice and other animal models. Considerable progress has been made in mapping and identifying the genes and mutations responsible for inherited forms of cataract, and genetic determinants of age-related cataract are beginning to be discovered. To provide a convenient and accurate summary of current information focused on the increasing genetic complexity of Mendelian and age-related cataract we have created an online chromosome map and reference database for cataract in humans and mice (Cat-Map).
晶状体混浊,即白内障,可能作为一种典型的孟德尔遗传病遗传,通常发病较早,或者更常见的是随着年龄增长而获得,是一种多因素或复杂性状。在小鼠和其他动物模型中已经描述了许多遗传形式的白内障。在绘制和鉴定导致遗传性白内障的基因和突变方面已经取得了相当大的进展,与年龄相关的白内障的遗传决定因素也开始被发现。为了方便、准确地总结当前聚焦于孟德尔式和年龄相关性白内障日益增加的遗传复杂性的信息,我们创建了一个人类和小鼠白内障的在线染色体图谱和参考数据库(白内障图谱)。