MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE

门克斯综合征基因的分子生物学

• 批准号: 6274605
• 负责人: THOMAS W GLOVER
• 金额: $ 2.15万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6274605
• 关键词: Menkes' syndrome; gene expression; human genetic material tag; molecular biology; molecular cloning; nucleic acid sequence; protein structure function; sex linked trait

The purpose of this study is to clone and characterize the gene responsible for Menke's syndrome, an X-linked recessive disorder of copper neurologic impairment with an incidence as high as 1 in 40,000 births. Our cloning strategy has been based on the physical translocation breakpoint interrupting the MNK gene. We have recently identified and cloned the gene and are currently characterizing the gene and protein product at all levels.

本研究的目的是克隆并鉴定该基因 导致 Menke 综合征，一种 X 连锁隐性遗传病 铜神经系统损伤的发生率高达四万分之一 出生。 我们的克隆策略是基于物理 易位断点中断 MNK 基因。 我们最近有 鉴定并克隆了该基因，目前正在表征该基因 和各个级别的蛋白质产品。