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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：
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
项目类别：
财政年份：
1997
资助国家：
美国
项目状态：
已结题
起止时间：
1997-12-01 至 1998-11-30
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

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中文摘要
翻译
本研究的目的是克隆和鉴定该基因。 孟克综合征是一种X连锁的隐性遗传性疾病 铜神经损害，发病率高达每40,000人中有1人 出生。我们的克隆策略一直基于 MNK基因的易位断裂点。我们最近做了 鉴定并克隆了该基因，目前正在对该基因进行鉴定 以及所有级别的蛋白质产品。
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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