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    • 35. 发明申请
    • MUTATIONS AND POLYMORPHISMS OF PTK2B
    • PTK2B的突变和多态性
    • WO2007095032A2
    • 2007-08-23
    • PCT/US2007/003280
    • 2007-02-07
    • NOVARTIS AGNOVARTIS PHARMA GmbHCULVER, Kenneth WayneZHU, JianLILLEBERG, Stan
    • CULVER, Kenneth WayneZHU, JianLILLEBERG, Stan
    • C12Q1/6886C12N9/1205C12Q2600/106C12Q2600/172
    • This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the PTK2B gene. The invention provides new PTK2B mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the PTK2B mutations of the invention, expression vectors encoding the PTK2B mutant polypeptides of the invention and organisms that express the PTK2B mutant and polymorphic polynucleotides and/or PTK2B mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the PTK2B mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.
    • 本发明一般涉及体外组织样品的分析检测,更具体地涉及PTK2B基因的遗传多态性和突变的方面。 本发明提供了新的PTK2B突变和SNP,其可用于诊断和治疗有需要的受试者。 因此,本发明的各个方面涉及编码本发明的PTK2B突变的多核苷酸,编码本发明的PTK2B突变体多肽的表达载体和表达PTK2B突变体的生物和表达PTK2B突变体的多态性多核苷酸和/或PTK2B突变体/多态性多肽 发明。 本发明的各个方面还涉及使用本发明的PTK2B突变和多态性的诊断/诊断方法和试剂盒来鉴定易患疾病的个体或针对药物反应性,副作用或最佳药物剂量对个体进行分类。