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    Human Autism Susceptibility Genes Encoding a Neurotransmitter Transporter and Uses Thereof
    13.
    发明申请
    Human Autism Susceptibility Genes Encoding a Neurotransmitter Transporter and Uses Thereof 审中-公开
    人类自闭症易感基因编码神经递质转运蛋白及其用途

    公开(公告)号：US20080213765A1

    公开(公告)日：2008-09-04

    申请号：US11817291

    申请日：2006-02-27

    申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    IPC分类号： C12Q1/68 ,  G01N33/53

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158

    摘要： The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the SLC6A1 or SLC6A11 gene on chromosome 3 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the SLC6A1 or SLC6A11 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, childhood disintegrative disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia.

    摘要翻译： 本发明公开了一种人类自闭症易感性基因的鉴定，其可用于诊断，预防和治疗自闭症及相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了染色体3上的SLC6A1或SLC6A11基因及其某些等位基因与自闭症易感性有关，代表治疗干预的新靶点。 本发明涉及SLC6A1或SLC6A11基因和表达产物中的特定突变，以及基于这些突变的诊断工具和试剂盒。 本发明可用于诊断阿斯伯格综合征，普遍性发育障碍，儿童崩解障碍，智力迟钝，焦虑，抑郁，注意缺陷多动障碍，言语延迟，癫痫，代谢紊乱的倾向，检测，预防和/或治疗 ，免疫障碍，双相性精神疾病和其他精神和神经疾病，包括精神分裂症。

    Human autism susceptibility gene and uses thereof
    14.
    发明申请
    Human autism susceptibility gene and uses thereof 审中-公开
    人类自闭症易感基因及其用途

    公开(公告)号：US20070134664A1

    公开(公告)日：2007-06-14

    申请号：US10569243

    申请日：2004-08-20

    申请人： Jorg Hager ,  Anne Philippi ,  Elke Roschmann

    发明人： Jorg Hager ,  Anne Philippi ,  Elke Roschmann

    IPC分类号： A61K31/365 ,  C12Q1/68

    CPC分类号： C12Q1/6883 ,  A61K38/1709 ,  C07K14/47 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  G01N33/5008 ,  G01N33/5023 ,  G01N33/5058 ,  G01N33/5091

    摘要： The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the SLC6A7 gene on chromosome 5 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the SLC6A7 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.

    摘要翻译： 本发明公开了一种人类自闭症易感性基因的鉴定，其可用于诊断，预防和治疗自闭症及相关疾病，以及用于筛选治疗活性药物。 本发明更具体地公开了染色体5上的SLC6A7基因及其某些等位基因与自闭症的易感性相关，并且代表治疗干预的新靶标。 本发明涉及SLC6A7基因和表达产物中的特定突变，以及基于这些突变的诊断工具和试剂盒。 本发明可用于诊断阿斯伯格综合征，普遍发育障碍，智力低下，焦虑，抑郁，注意缺陷多动障碍，言语延迟，癫痫，代谢紊乱，免疫功能障碍， 双相性疾病等精神病和神经系统疾病。

    Compositions and methods for genetic analysis
    15.
    发明授权
    Compositions and methods for genetic analysis 失效
    遗传分析的组成和方法

    公开(公告)号：US07166432B2

    公开(公告)日：2007-01-23

    申请号：US10655598

    申请日：2003-09-05

    申请人： Jörg Hager ,  Peter Brooks

    发明人： Jörg Hager ,  Peter Brooks

    IPC分类号： C12Q1/68 ,  C12P19/34

    CPC分类号： D06F37/304 ,  H02K7/1004

    摘要： The present invention relates to genetic mapping of complex quantitative and qualitative traits. This invention more particularly relates to compositions and methods to identify identical DNA fragments from two different DNA sources. The methods allow the amplification of the DNAs, their labelling, and the separation of perfectly matched DNAs from imperfectly matched DNAs or from DNAs formed through hybridization from the same source (e.g., homohybrids). The invention may be used to identify genes or gene mutations, which are relevant to pathological conditions or particular traits.

    摘要翻译： 本发明涉及复杂的定量和定性特征的遗传图谱。 本发明更具体地涉及鉴定来自两个不同DNA来源的相同DNA片段的组合物和方法。 这些方法允许DNA的扩增，它们的标记和完全匹配的DNA与不完全匹配的DNA或从通过来自相同来源的杂交形成的DNA（例如，homohybrids）的分离。 本发明可用于鉴定与病理状况或特定性状相关的基因或基因突变。

    METHOD FOR AUTISM PREDICTION
    18.
    发明申请
    METHOD FOR AUTISM PREDICTION 审中-公开
    用于预测的方法

    公开(公告)号：US20110086777A1

    公开(公告)日：2011-04-14

    申请号：US12997137

    申请日：2009-06-12

    申请人： Jérôme Carayol ,  Frédéric Tores ,  Jörg Hager

    发明人： Jérôme Carayol ,  Frédéric Tores ,  Jörg Hager

    IPC分类号： C40B30/04 ,  C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to a method for evaluating the level of risk for a subject to develop autism, or an autism spectrum disorder, which method comprises determining the number of risk alleles in autism-associated gene loci in a sample of a subject, wherein the more risk alleles are detected within said gene loci combined, the more increased is the risk of developing autism or an autism-spectrum disorder.

    摘要翻译： 本发明涉及一种用于评估受试者发展自闭症或自闭症谱系障碍的风险水平的方法，该方法包括确定受试者样品中自闭症相关基因位点中的风险等位基因的数量，其中 在所述基因位点组合中检测到更多的风险等位基因，发生自闭症或自闭症谱系障碍的风险越高。

    HUMAN DIABETES SUSCEPTIBILITY PEBP4 GENE
    20.
    发明申请
    HUMAN DIABETES SUSCEPTIBILITY PEBP4 GENE 审中-公开
    人类糖尿病不育PEBP4基因

    公开(公告)号：US20100203517A1

    公开(公告)日：2010-08-12

    申请号：US12526287

    申请日：2008-02-20

    申请人： Anne Philippi ,  Jorg Hager ,  Francis Rousseau

    发明人： Anne Philippi ,  Jorg Hager ,  Francis Rousseau

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/172

    摘要： The present invention relates to a diagnostic method of determining whether a subject, preferably an obese subject, is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the PEBP4 gene locus in a biological sample of said subject.

    摘要翻译： 本发明涉及一种确定受试者，优选肥胖受试者是否处于发展中的2型糖尿病的风险的诊断方法，该方法包括检测所述受试者的生物样品中PEBP4基因座的变化的存在。