Molecular Genetics of X-L Cone-Rod Dystrophy

X-L 视杆细胞营养不良的分子遗传学

• 批准号: 6326981
• 负责人: MICHAEL B GORIN
• 金额: $ 29.46万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-04-01 至 2004-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6326981
• 关键词: alleles; artificial chromosomes; capillary electrophoresis; clinical research; computer assisted sequence analysis; cone cell; family genetics; gene expression; gene mutation; genetic disorder; genetic library; genetic screening; genotype; human genetic material tag; human tissue; in situ hybridization; linkage mapping; nucleic acid sequence; polymerase chain reaction; regulatory gene; retina degeneration; rod cell; sex linked trait; single strand conformation polymorphism; visual photoreceptor; visual phototransduction

DESCRIPTION (Investigator's abstract): The long range objective of this project is to identify the gene responsible for a specific human retinal degeneration, the X-linked cone-rod dystrophy (COD-1) and eventually understand its function in the retina. We began linkage studies on COD-1 over nine years ago and we have refined the COD-1 locus to a limited region of Xp11.4. We have access to at least 13 COD-1 families which we will use to further localize and test for the causative gene using a combination of positional and candidate gene screening methodologies. We will identify and characterize the candidate genes using genomic informatics and by direct characterization of COD-I critical region, as defined by linkage mapping and haplotype analyses. We will perform mutation screening of candidate genes using DNA from affected COD-I individuals. This study will help to resolve issues of allelic and genetic heterogeneity for X-linked retinal degenerations and will further our understanding of the biology of degenerative eye diseases.

描述（研究者的摘要）：该项目的远距离目标 是确定负责特定人类视网膜变性的基因 X连锁的锥体杆营养不良（COD-1），最终了解其功能 在视网膜中。我们在九年前就开​​始对COD-1的连锁研究，我们 已将COD-1基因座改进到XP11.4的有限区域。我们可以访问 至少我们将使用13个COD-1家族来进一步本地化和测试 使用位置和候选基因组合的病因基因 筛选方法。我们将识别并表征候选基因 使用基因组信息学并通过直接表征COD-I关键 区域，由链接映射和单倍型分析定义。我们将表演 使用受影响COD-I的DNA对候选基因的突变筛选 个人。这项研究将有助于解决等位基因和遗传的问题 X连锁视网膜变性的异质性，将进一步进一步 了解退化性眼部疾病的生物学。