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    • 2. 发明申请
    • POLYMORPHISMS IN THE HUMAN CYP2B6 GENE AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS
    • 人CYP2B6基因多态性及其在诊断和治疗应用中的应用
    • WO0159152A9
    • 2002-08-08
    • PCT/EP0101456
    • 2001-02-09
    • EPIDAUROS BIOTECHNOLOGIE AGZANGER ULRICH MLANG THOMAS
    • ZANGER ULRICH MLANG THOMAS
    • A01K67/027A61K31/00A61K38/46A61K48/00C07K14/80C07K16/18C12N5/10C12N9/02C12N15/53C12N15/63C12Q1/68G01N33/53
    • C12N9/0038A01K2217/05C12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/172G01N33/573
    • 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 expressionand/or function of the CYP2B6 genes. In particular, polynucleotides of molecular variant CYP2B6 genes which, for example, are associated with insufficient metabolization and/or sensitivity 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.
    • 描述了诊断和治疗表型谱的一般手段和方法以及CYP2B6基因的几种遗传异常表达和/或功能的重叠临床特征。 具体而言,提供了例如与药物代谢和/或敏感性不足相关的分子变异CYP2B6基因的多核苷酸,以及包含这种多核苷酸的载体。 此外,描述了包含此类多核苷酸或载体的宿主细胞及其用于产生变体CYP2B6蛋白质的用途。 另外,提供了变体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基因功能失常相关的病症的抑制剂的方法以及诊断这些病症状态的方法。 也描述了用于用作为CYP2B6基因产物的底物,抑制剂或调节剂的药物来诊断和治疗各种疾病的药物和诊断组合物。
    • 4. 发明申请
    • POLYMORPHISMS IN THE HUMAN CYP2B6 GENE AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS
    • 人CYP2B6基因多态性及其在诊断和治疗应用中的应用
    • WO0159152A2
    • 2001-08-16
    • PCT/EP0101456
    • 2001-02-09
    • EPIDAUROS BIOTECHNOLOGIE AGZANGER ULRICH MLANG THOMAS
    • ZANGER ULRICH MLANG THOMAS
    • A01K67/027A61K31/00A61K38/46A61K48/00C07K14/80C07K16/18C12N5/10C12N9/02C12N15/53C12N15/63C12Q1/68G01N33/53
    • C12N9/0038A01K2217/05C12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/172G01N33/573
    • 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 expressionand/or function of the CYP2B6 genes. In particular, polynucleotides of molecular variant CYP2B6 genes which, for example, are associated with insufficient metabolization and/or sensitivity 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.
    • 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,提供了例如与药物的代谢不足和/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。 还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。