MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE

门克斯综合征基因的分子生物学

• 批准号: 6244555
• 负责人: THOMAS W GLOVER
• 金额: $ 2.22万
• 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: 1997-02-20 至 1997-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6244555
• 关键词: Menkes' syndrome; human genetic material tag; molecular biology; molecular cloning; nucleic acid sequence

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和鉴定该基因 Menke综合征是一种X连锁隐性遗传疾病， 铜神经功能损害，发病率高达1/40，000 出生 我们的克隆策略是基于 易位断点中断MNK基因。 我们最近 鉴定并克隆了该基因，目前正在鉴定该基因 和蛋白质产品。