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    • 7. 发明申请
    • METHODS AND COMPOSITIONS FOR ASSAYING MUTATIONS IN NUCLEIC ACIDS
    • 用于测定核酸中突变的方法和组合物
    • WO2005061728A1
    • 2005-07-07
    • PCT/IB2003/006016
    • 2003-12-16
    • INSTITUT CURIECENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUEVIOVY, Jean-Louis
    • VIOVY, Jean-Louis
    • C12Q1/68
    • C12Q1/6827Y10T436/143333C12Q2527/137C12Q2537/113C12Q2565/125C12Q2527/125
    • The present invention relates to a method for assaying the presence or the absence of at least one mutation on a strand of nucleic acid paired in a duplex form comprising at least the steps of contacting said duplex with at least one compound able to undergo a specific base pairing interaction with suspected mismatch and assaying for said mismatch by an analytical method. The invention further relates to the use in the diagnosis of predisposition to genetic diseases and cancers and in the diagnosis and prognosis of said diseases and cancers, like human breast cancer. The invention also relates to compositions including a compound able to undergo specific base pairing interaction, in association with a DNA fragment having a nucleic sequence relating to a gene on which point mutation(s) has been associated or putatively associated with a genetic disease or an increased predisposition to said disease.
    • 本发明涉及用于测定双链体配对的核酸链上存在或不存在至少一个突变的方法,该方法至少包括使所述双链体与至少一种能够经受特定碱基的化合物接触的步骤 配对相互作用与疑似错配,并通过分析方法测定所述错配。 本发明还涉及用于诊断遗传疾病和癌症易感性以及所述疾病和癌症如人乳腺癌的诊断和预后的用途。 本发明还涉及包含能够经历特异性碱基配对相互作用的化合物的组合,与具有与其上的点突变已经与遗传疾病相关联或推测相关的基因的核酸序列的DNA片段相关联,或 增加对所述疾病的倾向。