MOLECULAR GENETICS OF MACULAR DEGENERATION

黄斑变性是导致患者合法失明的主要原因 发达国家55岁以上的老年人。在一项研究中，近28%的 75岁以上的患者有不同程度的黄斑变性。其他研究 已经表明，黄斑变性的很大一部分是 可遗传的。这使得使用分子遗传学方法成为可能。 以确定导致黄斑变性的基因。理解这一点 分子水平上的常见疾病有可能显著 提高今后的诊疗能力。 在这项拨款中提出的工作的总体目标是确定具体的 导致遗传性黄斑疾病的基因，包括常见的 晚发性黄斑变性。具体目标是：1) 分离和鉴定导致Best‘s病的基因并提纯 一种称为显性黄斑的疾病的染色体定位 有斑点的营养不良；2)将致病基因定位在 有早发性和晚发性(年龄相关)黄斑疾病的家庭；3) 探讨晚发性黄斑病变的潜在等位基因关系 退化和早发性营养不良；4)测试一组“高 优先寻找黄斑疾病相关证据的候选基因； 以及5)探索三联体重复在 黄斑变性。

Macular degeneration is the leading cause of legal blindness in patients over the age of 55 in developed countries. In one study, nearly 28% of patients over 75 had some degree of macular degeneration. Other studies have suggested that a significant proportion of macular degeneration is heritable. This makes it possible to use a molecular genetic approach to identify genes that cause macular degeneration. Understanding this common disease at the molecular level has the potential to markedly improve the ability to diagnose and treat it in the future. The broad goal of the work proposed in this grant is to identify specific genes that cause inherited forms of macular disease including the common late-onset form of macular degeneration. The specific aims are to: 1) isolate and characterize the gene that causes Best's disease and refine the chromosomal location of a condition known as Dominant Macular Dystrophy with Flecks; 2) map the disease-causing genes in additional families with early and late-onset (age related) macular diseases; 3) investigate the potential allelic relationship between late-onset macular degeneration and earlier-onset dystrophies; 4) test a panel of "high priority" candidate genes for evidence of involvement in macular disease; and 5) explore the possibility that triplet repeats play a role in macular degeneration.