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NEUROGLYCOPENIA--GENOTYPE/PHENOTYPE CORRELATION

NEUROGLYCOPENIA--GENOTYPE/PHENOTYPE CORRELATION
神经血糖减少症--基因型/表型相关性
批准号：
6394013
负责人：
DARRYL C DE VIVO
金额：
$41.06万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-08-01 至 2003-07-31
来源：
https://reporter.nih.gov/project-details/6394013
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

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中文摘要
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英文摘要
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.
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