公开(公告)号：US20090012026A1

公开(公告)日：2009-01-08

申请号：US12067667

申请日：2006-09-20

Applicant: Ian David Cook ,  Angela Flannery ,  Rose Maciewicz

Inventor： Ian David Cook ,  Angela Flannery ,  Rose Maciewicz

IPC: A61K31/7105 ,  C12Q1/68 ,  G01N33/53 ,  A61P19/00 ,  G01N33/00 ,  C12Q1/02

CPC classification number: C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/6872 ,  G01N2500/00 ,  G01N2800/105

Abstract: The present invention arises from the identification of an association between the TDOA gene and osteoarthritis (OA). It therefore relates to diagnostic techniques for determining a patient's susceptibility to develop OA by detecting all or part of the TDOA gene, its precursors or products (mRNA, cDNA, genomic DNA, or protein). In particular, the invention relates to methods and materials for analysing allelic variation in the TDOA gene, and to the use of TDOA polymorphisms in the identification of an individuals' risk to develop OA. The TDOA protein has been found to bind to α-paxillin, a protein involved in integrin signal transduction which itself is a process with strong links to OA. The invention is thus also directed to methods for identifying modulators of OA, which modulate the TDOA gene or interfere with TDOA:α-paxillin binding.

Abstract translation: 本发明来源于鉴定TDOA基因与骨关节炎（OA）之间的关联。 因此，它涉及通过检测全部或部分TDOA基因，其前体或产物（mRNA，cDNA，基因组DNA或蛋白质）来确定患者开发OA的易感性的诊断技术。 特别地，本发明涉及用于分析TDOA基因中的等位基因变异的方法和材料，以及用于鉴定个体发展OA的风险的TDOA多态性。 已经发现TDOA蛋白与α-桩蛋白结合，这是涉及整联蛋白信号转导的蛋白质，其本身是具有与OA的强连接的过程。 因此，本发明还涉及用于鉴定调节TDOA基因或干扰TDOA：α-桩蛋白结合的OA调节剂的方法。