NEUROGLYCOPENIA--GENOTYPE/PHENOTYPE CORRELATION

神经血糖减少症--基因型/表型相关性

• 批准号: 2704147
• 负责人: DARRYL C DE VIVO
• 金额: $ 37.42万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-08-01 至 2003-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2704147
• 关键词: animal genetic material tag; brain disorders; clinical research; developmental genetics; developmental neurobiology; gene induction /repression; genetically modified animals; genotype; glucose transporter; human genetic material tag; human subject; inborn carbohydrate metabolism disorder; laboratory mouse; mutant; neuropathology; nucleic acid sequence; phenotype; protein structure function; restriction fragment length polymorphism; single strand conformation polymorphism

DESCRIPTION: The goal of this proposal are to systematically study a cohort of neuroglycopenia patients to determine if there is a phenotypic correlation with specific defects in the GLUT-1 gene, a glucose transported that has been found to have point or nonsense mutations in 5 or 17 patients so far. In addition, GLUT-1 karyotypic rearrangements have found in two patients. These findings indicate that mutations which result in a loss of GLUT-1 activity are linked to the onset of the phenotype. The first Aim will be carry out genotypic analysis on the existing patients and on new patients as they become available at a rate of approximately 4/year. The focus of Aim 2 will be an extensive characterization of the phenotype of existing and new patients. Aim 3 will be to develop GLUT-1 deficient mice by homologous recombination and to carry out a neuropathological analysis of these animals.

描述：该提案的目的是系统地研究 神经胶质细胞减少症患者的队列，以确定是否存在表型 与GLUT-1基因中的特定缺陷相关，葡萄糖 被发现在5个中有点或废话突变的运输 到目前为止，有17名患者。此外，GLUT-1核型重排具有 在两名患者中发现。这些发现表明导致的突变 在损失GLUT-1的活动中，活性与表型的发作有关。这 首先将对现有患者进行基因型分析 在新患者时，他们以大约速度可用 4/年。 AIM 2的重点将是对 现有患者和新患者的表型。 AIM 3将是开发Glut-1 通过同源重组不足的小鼠，并进行 这些动物的神经病理分析。