CFTR allele detection assays
    9.
    发明授权
    CFTR allele detection assays 有权
    CFTR等位基因检测分析

    公开(公告)号:US07312033B2

    公开(公告)日:2007-12-25

    申请号:US10371913

    申请日:2003-02-21

    IPC分类号: C07H21/04 C12Q1/68

    CPC分类号: C12Q1/6883 C12Q2600/156

    摘要: The present invention provides compositions and methods for the detection and characterization of mutations associated with cystic fibrosis. More particularly, the present invention provides compositions, methods and kits for using invasive cleavage structure assays (e.g. the INVADER assay) to screen nucleic acid samples, e.g., from patients, for the presence of any one of a collection of mutations in the CFTR gene associated with cystic fibrosis. The present invention also provides compositions, methods and kits for screening sets of CFTR alleles in a single reaction container.

    摘要翻译: 本发明提供了用于检测和表征与囊性纤维化相关的突变的组合物和方法。 更具体地,本发明提供了组合物,方法和试剂盒,其用于使用侵入性切割结构测定法(例如INVADER测定法)筛选核酸样品,例如来自患者,以存在CFTR基因中的任何突变集合 与囊性纤维化有关。 本发明还提供用于筛选单个反应容器中的CFTR等位基因组的组合物,方法和试剂盒。