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: 6297131
• 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/6297131
• 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.

实验室研究的目的是了解人类视觉系统发展和相关遗传缺陷的分子机制。 我们正在使用位置克隆策略来分离X连锁眼病的遗传基因座，特别关注色素性视网膜炎。减去cDNA克隆已用于鉴定视网膜和胎儿眼特异性cDNA。 正在为基因组映射和识别候选疾病基因座的基因组映射开发了表达的眼睛特异性cDNA序列标签。 正在研究在视网膜中优先表达的许多基因。