Described are methods of detecting modified nucleotide bases in a DNA sample using specific DNA glycosylases to excise target modified bases. DNA molecules are then labeled using a DNA polymerase lacking 3′→5′ exo-nuclease activity and strand displacement activity. The methods can be used to detect epigenetic changes and DNA damage. Provided are methods for diagnosing a disease or condition, determining risk of a disease or condition, identifying appropriate treatment, monitoring effectiveness of treatment, and monitoring side effects of treatment in subjects based on detection of modified bases. Also provided are methods for determining environmental exposure, or an environmental exposure time, of a biological sample containing DNA. Also provided are kits, systems, and devices for performing the described methods.
描述了利用特定 DNA 糖基化酶切除目标修饰碱基来检测 DNA 样品中修饰核苷酸碱基的方法。然后使用缺乏 3′→5′ 外切
核酸酶活性和链置换活性的
DNA 聚合酶标记 DNA 分子。这些方法可用于检测表观遗传变化和 DNA 损伤。所提供的方法可用于诊断疾病或病症、确定疾病或病症的风险、确定适当的治疗方法、监测治疗效果,以及根据对修饰碱基的检测监测治疗对受试者的副作用。还提供了用于确定含有 DNA 的
生物样本的环境暴露或环境暴露时间的方法。还提供了用于执行所述方法的试剂盒、系统和装置。