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    POLYMORPHISMS IN THE HUMAN CYP2B6 GENE AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS
    1.
    发明申请
    POLYMORPHISMS IN THE HUMAN CYP2B6 GENE AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS 审中-公开
    人CYP2B6基因多态性及其在诊断和治疗应用中的应用

    公开(公告)号：US20090311696A1

    公开(公告)日：2009-12-17

    申请号：US12404772

    申请日：2009-03-16

    申请人： Ulrich Zanger ,  Thomas Lang

    发明人： Ulrich Zanger ,  Thomas Lang

    IPC分类号： C12Q1/68 ,  C07H21/00 ,  C12N15/63 ,  G01N33/68

    CPC分类号： C12N9/0038 ,  A01K2217/05 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  G01N33/573

    摘要： Described are general means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the CYP2B6 genes. In particular, polynucleotides of molecular variant CYP2B6 genes which, for example, are associated with insufficient metabolization and/or sensitively of drugs, and vectors comprising such polynucleotides are provided. Furthermore, host cells comprising such polynucleotides or vectors and their use for the production of variant CYP2B6 proteins are described. In addition, variant CYP2B6 proteins and antibodies specifically recognizing such proteins as well as transgenic non-human animals comprising the above-described polynucleotide or vectors are provided. Described are also methods for identifying and obtaining inhibitors for therapy of disorders related to the malfunction of the CYP2B6 gene as well as methods of diagnosing the status of such disorders. Pharmaceutical and diagnostic compositions useful for diagnosing and treating various diseases with drugs that are substrates, inhibitors or modulators of the CYP2B6 gene product are described as well.

    摘要翻译： 描述了诊断和治疗表型谱的一般手段和方法以及CYP2B6基因的几种形式的遗传异常表达和/或功能的重叠临床特征。 特别地，提供了例如与代谢不足和/或敏感性相关的分子变体CYP2B6基因的多核苷酸以及包含这种多核苷酸的载体。 此外，描述了包含这种多核苷酸或载体的宿主细胞及其用于产生变体CYP2B6蛋白的用途。 此外，提供变体CYP2B6蛋白质和特异性识别这些蛋白质的抗体以及包含上述多核苷酸或载体的转基因非人动物。 还描述了用于鉴定和获得用于治疗与CYP2B6基因功能紊乱相关的疾病的抑制剂的方法以及诊断此类疾病状态的方法。 也描述了可用于诊断和治疗各种疾病的药物和诊断组合物，其中药物是CYP2B6基因产物的底物，抑制剂或调节剂。

    Polymorphisms in the human gene for CYP2D6 and their use in diagnostic and therapeutic applications
    3.
    发明申请
    Polymorphisms in the human gene for CYP2D6 and their use in diagnostic and therapeutic applications 审中-公开
    CYP2D6人基因多态性及其在诊断和治疗应用中的应用

    公开(公告)号：US20050032070A1

    公开(公告)日：2005-02-10

    申请号：US10635780

    申请日：2003-08-05

    申请人： Sebastian Raimundo ,  Ulrich Zanger

    发明人： Sebastian Raimundo ,  Ulrich Zanger

    IPC分类号： C07H21/04 ,  C12N9/02 ,  C12Q1/68 ,  C07K14/705

    CPC分类号： C12N9/0077 ,  C07H21/04 ,  C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the CYP2D6 gene. In particular, the present invention relates to polynucleotides of molecular variants of the CYP2D6 gene, which for example, are associated with abnormal drug response and disorders caused by altered activity of the CYP2D6 enzyme, and vectors comprising these polynucleotides. Furthermore, the present invention relates to host cells comprising such polynucleotides or vectors. The invention also relates to a transgenic non-human animal. Furthermore, kits comprising oligonucleotides hybridizing to the CYP2D6 gene useful for the diagnosis of an altered activity of the CYP2D6 enzyme are provided. In addition, the invention relates to methods for diagnosing a polynucleotide associated with an intermediate metabolizer phenotype of CYP2D6 drugs.

    摘要翻译： 本发明涉及诊断和治疗表型谱的方法和方法以及CYP2D6基因的几种形式的遗传异常表达和/或功能的重叠临床特征。 特别地，本发明涉及CYP2D6基因的分子变体的多核苷酸，其例如与由CYP2D6酶的活性改变引起的异常药物反应和病症相关，以及包含这些多核苷酸的载体。 此外，本发明涉及包含这种多核苷酸或载体的宿主细胞。 本发明还涉及转基因非人动物。 此外，提供了包含与CYP2D6基因杂交的寡核苷酸的试剂盒，其可用于诊断CYP2D6酶的活性的改变。 此外，本发明涉及用于诊断与CYP2D6药物的中间代谢表型相关的多核苷酸的方法。

    Polymorphisms in the human CYP2D6 gene promoter region and their use in diagnostic and therapeutic applications
    4.
    发明授权
    Polymorphisms in the human CYP2D6 gene promoter region and their use in diagnostic and therapeutic applications 有权
    人CYP2D6基因启动子区域的多态性及其在诊断和治疗应用中的应用

    公开(公告)号：US08129112B2

    公开(公告)日：2012-03-06

    申请号：US10182977

    申请日：2001-01-30

    申请人： Sebastian Raimundo ,  Ulrich Zanger

    发明人： Sebastian Raimundo ,  Ulrich Zanger

    IPC分类号： C12Q1/68 ,  C07H21/04 ,  C12P19/34

    CPC分类号： C12N9/0077 ,  C12Q1/6883 ,  C12Q2600/156

    摘要： Provided are polynucleotides of molecular variant promoters of the CYP2D6 gene which, for example, are associated with abnormal drug response or individual predisposition to several common diseases and disorders caused by drug under- or over-metabolization, and vectors comprising such polynucleotides. Furthermore, methods of diagnosing the status of disorders related to intermediate metabolization of drugs are described. In addition, kits comprising oligonucleotides hybridizing to the CYP2D6 promoter and/or being capable of being extended into this region useful for diagnosing subjects that are ultrarapid or intermediate metabolizer of drugs are provided.

    摘要翻译： 提供了CYP2D6基因的分子变体启动子的多核苷酸，其例如与由药物不足或过度代谢引起的几种常见疾病和病症的异常药物反应或个体倾向相关，以及包含该多核苷酸的载体。 此外，描述了诊断与中间代谢药物相关的病症状态的方法。 此外，提供了包含与CYP2D6启动子杂交的寡核苷酸和/或能够延伸到该区域中的寡核苷酸的试剂盒，其用于诊断超临界或中间代谢药物的受试者。

    POLYMORPHISIMS IN THE HUMAN CYP2D6 GENE PROMOTER REGION AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS
    6.
    发明申请
    POLYMORPHISIMS IN THE HUMAN CYP2D6 GENE PROMOTER REGION AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS 审中-公开
    人CYP2D6基因启动子区域的多态性及其在诊断和治疗应用中的应用

    公开(公告)号：US20120270948A1

    公开(公告)日：2012-10-25

    申请号：US13350635

    申请日：2012-01-13

    申请人： Sebastian Raimundo ,  Ulrich Zanger

    发明人： Sebastian Raimundo ,  Ulrich Zanger

    IPC分类号： C12N15/11 ,  C12N1/00 ,  C12N15/63 ,  A61K31/137 ,  A61P25/00 ,  A61P9/06 ,  A61P25/24 ,  A61P35/00 ,  A61P25/04 ,  C12Q1/68 ,  C07C211/27

    CPC分类号： C12N9/0077 ,  C12Q1/6883 ,  C12Q2600/156

    摘要： Provided are polynucleotides of molecular variant promoters of the CYP2D6 gene which, for example, are associated with abnormal drug response or individual predisposition to several common diseases and disorders caused by drug under- or over-metabolization, and vectors comprising such polynucleotides. Furthermore, methods of diagnosing the status of disorders related to intermediate metabolization of drugs are described. In addition, kits comprising oligonucleotides hybridizing to the CYP2D6 promoter and/or being capable of being extended into this region useful for diagnosing subjects that are ultrarapid or intermediate metabolizer of drugs are provided.

    摘要翻译： 提供了CYP2D6基因的分子变体启动子的多核苷酸，其例如与由药物不足或过度代谢引起的几种常见疾病和病症的异常药物反应或个体倾向相关，以及包含该多核苷酸的载体。 此外，描述了诊断与中间代谢药物相关的病症状态的方法。 此外，提供了包含与CYP2D6启动子杂交的寡核苷酸和/或能够延伸到该区域中的寡核苷酸的试剂盒，其用于诊断超临界或中间代谢药物的受试者。