Method for Detecting and Quantifying Rare Mutations/Polymorphisms
    41.
    发明申请
    Method for Detecting and Quantifying Rare Mutations/Polymorphisms 有权
    检测和定量稀有突变/多态性的方法

    公开(公告)号:US20080032287A1

    公开(公告)日:2008-02-07

    申请号:US10589709

    申请日:2005-02-18

    Abstract: The present invention is directed to a method for detecting and quantifying rare mutations in a nucleic acid sample. The nucleic acid molecules under investigation can be either DNA or RNA. The rare mutation can be any type of functional or non-functional nucleic acid change or mutation, such as deletion, insertion, translocation, inversion, one or more base substitution or polymorphism. Therefore, the methods of the present invention are useful in detection of rare mutations in, for example, diagnostic, prognostic and follow-up applications, when the targets are rare known nucleic acid variants mixed in with the wildtype or the more common nucleic acid variant(s).

    Abstract translation: 本发明涉及一种用于检测和定量核酸样品中罕见突变的方法。 正在研究的核酸分子可以是DNA或RNA。 罕见突变可以是任何类型的功能或非功能性核酸变化或突变,例如缺失,插入,易位,反转,一个或多个碱基取代或多态性。 因此,当目标是罕见的已知的与野生型或更常见的核酸变体混合的核酸变体时,本发明的方法可用于检测例如诊断,预后和随访应用中的罕见突变 (s)。

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