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    COMBINATION OF RISK ALLELES ASSOCIATED WITH AUTISM
    1.
    发明申请
    COMBINATION OF RISK ALLELES ASSOCIATED WITH AUTISM 审中-公开
    与澳大利亚相关的风险组合的组合

    公开(公告)号：US20110091899A1

    公开(公告)日：2011-04-21

    申请号：US12997150

    申请日：2009-06-12

    申请人： Jörg Hager ,  Frédéric Tores ,  Francis Rousseau

    发明人： Jörg Hager ,  Frédéric Tores ,  Francis Rousseau

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder, the method comprising detecting the presence of an alteration in the gene loci PITX1, ATP2B2, SLC25A12 and EN2 in a sample from said subject. More particularly, the presence of specific single nucleotide polymorphisms (SNPs) within these genes correlates to a substantially increased risk to develop autism.

    摘要翻译： 本发明涉及一种检测自闭症或自闭症谱系障碍的存在或倾向的方法，所述方法包括检测来自所述受试者的样品中基因位点PITX1，ATP2B2，SLC25A12和EN2中的改变的存在 。 更具体地说，这些基因内的特定单核苷酸多态性（SNP）的存在与发展自闭症的风险大大增加相关。

    Human Autism Susceptibility Gene Encoding PRKCB1 and Uses Thereof
    6.
    发明申请
    Human Autism Susceptibility Gene Encoding PRKCB1 and Uses Thereof 审中-公开
    人类自闭症易感基因编码PRKCB1及其用途

    公开(公告)号：US20100240539A1

    公开(公告)日：2010-09-23

    申请号：US12716538

    申请日：2010-03-03

    申请人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jörg Hager

    发明人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jörg Hager

    IPC分类号： C40B30/00 ,  C12Q1/68 ,  G01N33/50

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  Y10T436/143333

    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 PRKCB 1 gene on chromosome 16 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 PRKCBI 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 or language impairment, 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16上的PRKCB1基因及其某些等位基因与自闭症的易感性相关，并且代表治疗性干预的新靶标。 本发明涉及PRKCBI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症，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，言语延迟或语言障碍，癫痫发作，发作，预防和/或治疗 ，代谢紊乱，免疫障碍，双相性精神障碍和其他精神和神经疾病。

    HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE AND USES THEREOF
    7.
    发明申请
    HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE AND USES THEREOF 审中-公开
    人类免疫缺陷基因编码一种激酶及其用途

    公开(公告)号：US20090011414A1

    公开(公告)日：2009-01-08

    申请号：US11816468

    申请日：2006-02-16

    申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    IPC分类号： C12Q1/68 ,  G01N33/573

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

    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 MARK1 gene on chromosome 1 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 MARKI 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 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1上的MARK1基因及其某些等位基因与自闭症的易感性相关，并且代表治疗性干预的新靶标。 本发明涉及MARKI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， 双相性精神障碍和其他精神病和神经系统疾病，包括精神分裂症。

    Human Obesity Susceptibility Genes Encoding Peptide Hormones and Uses Thereof
    8.
    发明申请
    Human Obesity Susceptibility Genes Encoding Peptide Hormones and Uses Thereof 审中-公开
    人类肥胖易感性基因编码肽激素及其用途

    公开(公告)号：US20080254450A1

    公开(公告)日：2008-10-16

    申请号：US10593414

    申请日：2005-03-23

    申请人： Anne Philippi ,  Francis Rousseau

    发明人： Anne Philippi ,  Francis Rousseau

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： The present invention discloses the identification of human obesity susceptibility genes, which can be used for the diagnosis and prevention of obesity and related disorders. The invention more specifically discloses that the PPY and PYY gene on chromosome 17 and certain alleles thereof are related to susceptibility to obesity. The present invention relates to particular mutations in the PPY and PYY 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 or protection from, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and dyslipidemia.

    摘要翻译： 本发明公开了可用于诊断和预防肥胖症及相关疾病的人类肥胖易感基因的鉴定。 本发明更具体地公开了染色体17上的PPY和PYY基因及其某些等位基因与肥胖易感性有关。 本发明涉及PPY和PYY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。 本发明可以用于诊断，预防和/或治疗冠状动脉心脏病和代谢紊乱，包括低脂蛋白血症，家族性联合高脂血症，胰岛素抵抗综合征X或多种代谢紊乱，冠状动脉疾病， 糖尿病和血脂异常。

    Human Obesity Susceptibility Gene Encoding a Potassium Voltage-Gated Channel and Uses Thereof
    9.
    发明申请
    Human Obesity Susceptibility Gene Encoding a Potassium Voltage-Gated Channel and Uses Thereof 审中-公开
    人类肥胖易感性基因编码钾电压门控通道及其用途

    公开(公告)号：US20080193923A1

    公开(公告)日：2008-08-14

    申请号：US11569193

    申请日：2005-06-14

    申请人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    发明人： Anne Philippi ,  Francis Rousseau ,  Elke Roschmann

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： The present invention discloses the identification of a human obesity susceptibility gene, which can be used for the diagnosis, prevention and treatment of obesity and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the KCNAB2 gene on chromosome 1 and certain alleles thereof are related to susceptibility to obesity and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the KCNAB2 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 coronary heart disease and metabolic disorders, including hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and dyslipidemia.

    摘要翻译： 本发明公开了可用于诊断，预防和治疗肥胖症及相关疾病以及用于筛选治疗活性药物的人类肥胖易感基因的鉴定。 本发明更具体地公开了染色体1上的KCNAB2基因及其某些等位基因与肥胖易感性有关，代表治疗干预的新靶点。 本发明涉及KCNAB2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。 本发明可用于诊断冠状动脉心脏病和代谢紊乱（包括低脂蛋白血症，家族性联合高脂血症，胰岛素抵抗综合征X或多种代谢紊乱，冠状动脉疾病，糖尿病和血脂异常）的倾向性，检测，预防和/或治疗 。

    Human Autism Susceptibility Gene Encoding Prkcb1 and Uses Thereof
    10.
    发明申请
    Human Autism Susceptibility Gene Encoding Prkcb1 and Uses Thereof 审中-公开
    人类自闭症易感基因编码Prkcb1及其用途

    公开(公告)号：US20080193464A1

    公开(公告)日：2008-08-14

    申请号：US11570480

    申请日：2005-06-30

    申请人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jorg Hager

    发明人： Anne Philippi ,  Francis Rousseau ,  Peter Brooks ,  Jorg Hager

    IPC分类号： A61K39/395 ,  C12Q1/68 ,  A61K31/70 ,  A61K33/00 ,  A61P25/00 ,  A61K31/135 ,  A61K31/38 ,  G01N33/567

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  Y10T436/143333

    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 PRKCB1 gene of chromosome 16 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 PRKCB1 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 Asperse syndrome, pervasive developmental disorder, childhood disintegrate disorder, mental retardation, anxiety, depression, attention deficit hyperactive disorders, speech delay or language impairment, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological disease.

    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16号染色体的PRKCB1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PRKCB1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Asperse综合征，普遍发育障碍，儿童分解障碍，精神发育迟滞，焦虑，抑郁，注意力缺陷多动障碍，语言延迟或语言障碍，癫痫的倾向，检测，预防和/或治疗 ，代谢紊乱，免疫障碍，双相性精神障碍和其他精神疾病和神经疾病。