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    • 3. 发明授权
    • Simplified mutation detection
    • 简化突变检测
    • US06451526B1
    • 2002-09-17
    • US09232273
    • 1999-01-15
    • Lu SongDennis J. O'KaneKelly L. KrajnikJohn A. Heit
    • Lu SongDennis J. O'KaneKelly L. KrajnikJohn A. Heit
    • C12Q168
    • C12Q1/6883C12Q1/6827C12Q1/6858C12Q2600/156C12Q2565/101C12Q2531/113C12Q2525/161
    • The invention involves methods and materials for detecting a mutation in the genome of an organism. Specifically, the invention provides compositions of oligonucleotides and diagnostic kits that can be used to amplify nucleic acid sequences such that if heterologous amplified fragments are present, then stable nucleic acid branching structures are formed and detected from a cell lysate mixture containing the amplified nucleic acid. The formation of stable nucleic acid branching structures is particularly useful for providing a mechanism to detect heterologous alleles verses homozygous alleles since homozygous amplified products do not form stable nucleic acid branching structures. In addition, the invention provides methods of detecting heterologous Factor V alleles as well as homozygous wild-type and homozygous mutant Factor V alleles.
    • 本发明涉及用于检测生物体基因组中突变的方法和材料。 具体地说,本发明提供了可用于扩增核酸序列的寡核苷酸和诊断试剂盒的组合物,使得如果存在异源扩增片段,则从包含扩增的核酸的细胞裂解物混合物中形成稳定的核酸支化结构并检测其稳定的核酸支化结构。 稳定的核酸支化结构的形成特别可用于提供检测异源等位基因与纯合等位基因的机制,因为纯合扩增产物不形成稳定的核酸分支结构。 此外,本发明提供检测异源因子V等位基因以及纯合野生型和纯合突变体因子V等位基因的方法。