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公开(公告)号：US06391553B1
公开(公告)日：2002-05-21
申请号：US09446893
申请日：2000-03-16
IPC分类号： C12Q168
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The invention concerns a method for diagnosing Alzheimer disease, consisting in demonstrating one or several mutations in the genomic DNA region regulating the expression of the apolipoprotein E gene, inducing a modification of the apolipoprotein E gene, with respect to a control population or a modification of the expression relative to the alleles of the apolipoprotein E gene.
摘要翻译： 本发明涉及一种用于诊断阿尔茨海默病的方法，其包括在调控载脂蛋白E基因的表达的基因组DNA区域中显示一个或几个突变，诱导载脂蛋白E基因的修饰，相对于对照群体或修饰 相对于载脂蛋白E基因等位基因的表达。
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2.发明授权Use of the ornithine transcarbamylase (OTC), as a marker for diagnosing brain damages 有权使用鸟氨酸转氨甲酰酶（OTC）作为诊断脑损伤的标志物公开(公告)号：US08114624B2
公开(公告)日：2012-02-14
申请号：US12226413
申请日：2007-04-18
IPC分类号： C12Q1/40 , G01N33/53 , G01N33/542 , G01N33/537 , G01N33/566
CPC分类号： C07K16/40 , A01K2217/05 , A01K2267/0312 , C12N2830/002 , C12N2830/003 , C12N2830/008 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172 , G01N33/6896 , G01N2333/91034 , G01N2800/2821
摘要： The present invention pertains to the domain of brain diseases, and provides novel markers and methods for diagnosing a brain alteration in an individual, especially in patients suffering from neurodegenerative diseases such as Alzheimer's disease. The present invention also provides tools for evaluating the probability, for an individual, of developing the disease, as well as a target for identifying new drugs for treating neurodegenerative diseases such as Alzheimer's disease. In particular, the invention provides a genetic marker based on combination of two single nucleotide polymorphism, at positions −389 and −241 of the ornithine transcarbamylase (OTC) gene.
摘要翻译： 本发明涉及脑疾病的领域，并且提供了用于诊断个体中脑部改变的新型标志物和方法，特别是在患有神经变性疾病如阿尔茨海默病的患者中。 本发明还提供了用于评估个体发展疾病的可能性的工具，以及用于鉴定用于治疗神经变性疾病如阿尔茨海默氏病的新药物的靶标。 特别地，本发明提供了基于两个单核苷酸多态性在鸟氨酸转氨甲酰酶（OTC）基因的位置-389和-241的组合的遗传标记。
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公开(公告)号：US20120238461A1
公开(公告)日：2012-09-20
申请号：US13392431
申请日：2010-08-27
IPC分类号： C40B30/04
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates to an in vitro method for determining that an individual is at risk of developing Alzheimer's disease, which comprises: —determining whether the individual harbours at least one variant allele of a susceptibility gene selected from the apolipoprotein J gene (APOJ) and the complement component receptor 1 gene (CR 1); —deducing that if the individual harbours at least one variant allele of the APOJ and/or CR1 gene, then the individual is at risk of developing Alzheimer's disease.
摘要翻译： 本发明涉及一种用于确定个体处于发展中的阿尔茨海默病风险的体外方法，其包括：确定个体是否携带选自载脂蛋白J基因（APOJ）的易感性基因的至少一个变异等位基因和 补体成分受体1基因（CR 1）; 如果个体拥有APOJ和/或CR1基因的至少一个变异等位基因，则个体处于发展阿尔茨海默氏病的风险中。
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4.发明申请Use of the Ornithine Transcarbamylase (OTC), as a Marker for Diagnosing Brain Damages 有权使用鸟氨酸转氨酶（OTC）作为诊断脑损伤的标记物公开(公告)号：US20090178152A1
公开(公告)日：2009-07-09
申请号：US12226413
申请日：2007-04-18
IPC分类号： A01K67/027 , C12Q1/48 , G01N33/573 , C12Q1/68
CPC分类号： C07K16/40 , A01K2217/05 , A01K2267/0312 , C12N2830/002 , C12N2830/003 , C12N2830/008 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172 , G01N33/6896 , G01N2333/91034 , G01N2800/2821
摘要： The present invention pertains to the domain of brain diseases, and provides novel markers and methods for diagnosing a brain alteration in an individual, especially in patients suffering from neurodegenerative diseases such as Alzheimer's disease. The present invention also provides tools for evaluating the probability, for an individual, of developing the disease, as well as a target for identifying new drugs for treating neurodegenerative diseases such as Alzheimer's disease. In particular, the invention provides a genetic marker based on combination of two single nucleotide polymorphism, at positions −389 and −241 of the ornithine transcarbamylase (OTC) gene.
摘要翻译： 本发明涉及脑疾病的领域，并且提供了用于诊断个体中脑部改变的新型标志物和方法，特别是在患有神经变性疾病如阿尔茨海默病的患者中。 本发明还提供了用于评估个体发展疾病的可能性的工具，以及用于鉴定用于治疗神经变性疾病如阿尔茨海默氏病的新药物的靶标。 特别地，本发明提供了基于两个单核苷酸多态性在鸟氨酸转氨甲酰酶（OTC）基因的位置-389和-241的组合的遗传标记。
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公开(公告)号：US20080274990A1
公开(公告)日：2008-11-06
申请号：US11629495
申请日：2005-06-14
IPC分类号： A61K31/7105 , C07K14/435 , C07K16/00 , G01N33/53 , A61K31/711 , A01K67/027 , C12N15/00 , C07H21/04 , C07H21/02 , C12Q1/68
CPC分类号： C07K14/4711
摘要： The invention concerns a Cog47 protein and its polynucleotide, in particular associated with a predisposition to cognitive decline, to a conversion to dementia or to an already existing dementia, and the human S100β gene exhibiting a polymorphism associated with a predisposition to cognitive decline, to a conversion to dementia or to an already existing dementia. The invention also concerns a diagnostic method and a diagnostic kit.
摘要翻译： 本发明涉及CogH447蛋白及其多核苷酸，特别是与认知衰退的倾向相关，转化为痴呆或已经存在的痴呆，并且显示出与多发性相关的多态性的人S100beta基因 认知衰退的倾向，转化为痴呆或已经存在的痴呆症。 本发明还涉及诊断方法和诊断试剂盒。
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