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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
本研究的目的是克隆和表征Menke综合征的基因，Menke综合征是一种X连锁隐性铜神经功能障碍疾病，发病率高达1/40，000。 我们的克隆策略是基于物理易位断点中断MNK基因。 我们最近已经鉴定并克隆了该基因，目前正在对该基因和蛋白质产物进行各级鉴定。
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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