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MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE

MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE
门克斯综合征基因的分子生物学
批准号：
6113371
负责人：
THOMAS W GLOVER
金额：
$0.02万
依托单位：
UNIVERSITY OF MICHIGAN AT ANN ARBOR
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：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6113371
关键词：
Menkes' syndrome gene expression human genetic material tag molecular biology molecular cloning nucleic acid sequence protein structure function sex linked trait

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中文摘要
翻译
这项研究的目的是克隆和表征门克综合征的基因，门克综合征是一种铜神经功能障碍的x连锁隐性疾病，发病率高达1 / 40000。我们的克隆策略是基于破坏MNK基因的物理易位断点。我们最近鉴定并克隆了该基因，目前正在对该基因和蛋白产物进行各个层面的表征。
英文摘要
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.
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