CLONING RETINAL GENES LOCATED ON CHROMOSOME 11

克隆位于 11 号染色体上的视网膜基因

• 批准号: 2164416
• 负责人: THOMAS B. SHOWS
• 金额: $ 19.38万
• 依托单位: ROSWELL PARK CANCER INSTITUTE
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-06-01 至 1997-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2164416
• 关键词: artificial chromosomes; congenital eye disorder; eye disorder; genetic disorder; human genetic material tag; linkage mapping; molecular cloning; retina disorder

Genes coding for inherited eye disorders have been mapped by family studies and genetic linkage tests to two specific regions (11 q13 and 11p14/15.1) on human chromosome 11. The aim of this proposal is to locate and clone these genes associated with impaired sight. This will be accomplished by generating an ordered overlapping clone map consisting of chromosome ii specific YAC (yeast artificial chromosome) clones across the regions identified by linkage analysis to harbor the disease genes. CA repeats will be developed from YAC clones at 1 Mb intervals and used to identify by linkage analysis those YAC clones flanking the disease loci. cDNA selection and exon trapping will be applied to directly identify coding regions from those genomic clones identified in the smallest region harboring the genes. Resulting cDNA clones will be sequenced to test for criteria of coding regions. Candidate cDNA and corresponding genomic clones will be used to examine affected patients for mutations by single strand conformational polymorphisms (SSCP) and denaturing gradient gel electrophoresis (DOGE). The molecular and genetic abnormality for each disorder will be described by cloning and characterizing the genes responsible for these sight disorders. Eventual sequencing of the genes will allow a determination of the protein structure coded by the gene and its physiologic function. This knowledge will allow new insights into several common sight disorders.

为遗传性眼部疾病编码的基因已被家人绘制 研究和对两个特定区域的遗传连锁检验（11 Q13和 11p14/15.1）在人类染色体11上。该提议的目的是定位 并克隆这些与视力受损相关的基因。这将是 通过生成有序的重叠克隆地图来完成 跨染色体II特异性YAC（酵母人工染色体）克隆的克隆 通过连锁分析确定的区域藏有疾病基因。 CA重复将以1 MB的间隔从YAC克隆开发并使用 通过连锁分析识别那些YAC克隆侧面疾病的克隆 基因座。选择cDNA和外显子捕获将被应用于直接 从那些在 拥有基因的最小地区。由此产生的cDNA克隆将是 测序测试编码区域的标准。候选cDNA和 相应的基因组克隆将用于检查受影响的患者 用于单链构象多态性（SSCP）和 定性梯度凝胶电泳（Doge）。分子和遗传 每种疾病的异常将通过克隆和 表征负责这些视力障碍的基因。最终 基因的测序将允许测定蛋白质 由基因及其生理功能编码的结构。这个知识 将允许对几种常见视力障碍的新见解。