ISOLATION AND IDENTIFICATION OF THE HUMAN ANIRIDIA GENE

人无虹膜基因的分离与鉴定

• 批准号: 3267021
• 负责人: GRADY F SAUNDERS
• 金额: $ 21.57万
• 依托单位: UNIVERSITY OF TX MD ANDERSON CAN CTR
• 依托单位国家: 美国
• 财政年份: 1992
• 资助国家: 美国
• 起止时间: 1992-08-01 至 1995-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3267021
• 关键词: complementary DNA; congenital eye disorder; disease /disorder classification; disease /disorder proneness /risk; gene deletion mutation; gene expression; gene mutation; genetic disorder; genetic regulatory element; human genetic material tag; human subject; hybrid cells; molecular cloning; molecular genetics; northern blottings; phenotype; point mutation; polymerase chain reaction; protein sequence; protein structure function; structural genes; tissue /cell culture; transfection

This research is directed at the isolation and identification of the human aniridia gene. Aniridia, an eye disease, results in progressive loss of vision and is frequently accompanied by absence of the iris and changes in the optic nerve. Isolation of the gene for aniridia is important for several reasons: (a) it is necessary in understanding the molecular basis of the disease; (b) it will be useful in identifying individuals at risk for disease; (c) the severity of the disease may be correlated with the position of mutation in the gene i.e., change in levels of gene expression or changes in specific domains of the aniridia protein. Knowledge of the molecular structure of the gene should be very useful in classification of aniridia patients and future therapy. Using the physical map location in band pl3 of human chromosome 11 as a guide we used positional cloning to isolate a candidate gene for the aniridia locus. The message encoded by the gene is 2.7 kb in size and is present in the eyes and brain, both during the fetal and adult stages. Our objective is to determine the structure of the AN gene, deduce the protein encoded by it and its potential function. In extending this research to patients, we will search for mutation in the aniridia gene in affected individuals and determine if mutations in specific protein domains correlate with subtypes of the clinical disease.

本研究的目的是分离和鉴定人的 无虹膜基因。 无虹膜是一种眼病， 视力，并经常伴随着缺乏虹膜和变化， 视神经 无虹膜基因的分离对于 几个原因：（a）了解分子基础是必要的 （B）它将有助于识别处于风险中的个人 （c）疾病的严重程度可能与 基因中突变的位置，即，基因表达水平的变化 或无虹膜蛋白的特定结构域的变化。 知识 该基因的分子结构在分类中应该是非常有用的。 无虹膜患者和未来的治疗。 利用人类11号染色体p13带的物理图谱定位作为一种 我们使用定位克隆来分离候选基因， 无虹膜 该基因编码的信息大小为2.7 kb， 存在于眼睛和大脑中，在胎儿和成人阶段。 我们 目的是确定AN基因的结构，推导AN蛋白， 由它和它的潜在功能编码。 在将这项研究扩展到 患者，我们将在受影响的无虹膜基因中寻找突变。 并确定特定蛋白质结构域中的突变 与临床疾病的亚型相关。