MOLECULAR GENETICS OF RETINAL DEVELOPMENT AND INHERITED EYE DISEASE

视网膜发育和遗传性眼病的分子遗传学

• 批准号: 6113354
• 负责人: ANAND SWAROOP
• 金额: $ 0.02万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6113354
• 关键词: albinism; clinical research; complementary DNA; developmental genetics; eye disorder; genetic disorder; genetic mapping; human genetic material tag; human subject; molecular cloning; molecular pathology; nucleic acid sequence; retina; retinitis pigmentosa; sex linked trait

The goal of research in the lab is to understand the molecular mechanism of the development of visual system and associated genetic defects in man. We are using positional cloning strategies to isolate the genetic loci for X-linked eye diseases with a particular focus on Retinitis Pigmentosa. Subtraction cDNA cloning has been used to identify retina and fetal eye specific cDNAs. Expressed sequence tags for eye-specific cDNAs are being developed for genome mapping and for identifying candidate disease loci. A number of genes that are preferentially expressed in the retina are being investigated.

实验室研究的目标是了解人类视觉系统发育的分子机制以及相关的遗传缺陷。 我们正在使用定位克隆策略来分离 X 连锁眼病的遗传位点，特别关注色素性视网膜炎。扣除 cDNA 克隆已用于鉴定视网膜和胎儿眼睛特异性 cDNA。 正在开发眼睛特异性 cDNA 的表达序列标签，用于基因组作图和识别候选疾病位点。 正在研究一些优先在视网膜中表达的基因。