基于多重荧光的引物延伸法用于线粒体DNA的定量突变分析及其在阿尔茨海默病诊断中的应用
Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease.
作者信息
Fahy E, Nazarbaghi R, Zomorrodi M, Herrnstadt C, Parker W D, Davis R E, Ghosh S S
机构信息
MitoKor, 11494 Sorrento Valley Road, San Diego, CA 92121, USA.
出版信息
Nucleic Acids Res. 1997 Aug 1;25(15):3102-9. doi: 10.1093/nar/25.15.3102.
Abstract
A sensitive and highly reproducible multiplexed primer extension assay is described for quantitative mutation analysis of heterogeneous DNA populations. Wild-type and mutant target DNA are simultaneously probed in competitive primer extension reactions using fluorophor-labeled primers and high fidelity, thermostable DNA polymerases in the presence of defined mixtures of deoxy- and dideoxynucleotides. Primers are differentially extended and the resulting products are distinguished by size and dye label. Wild-type:mutant DNA ratios are determined from the fluorescence intensities associated with electrophoretically resolved reaction products. Multiple nucleotide sites can be simultaneously interrogated with uniquely labeled primers of different lengths. The application of this quantitative technique is shown in the analysis of heteroplasmic point mutations in mitochondrial DNA that are associated with Alzheimer's disease.
摘要
本文描述了一种灵敏且高度可重复的多重引物延伸分析方法，用于对异质DNA群体进行定量突变分析。在竞争性引物延伸反应中，使用荧光团标记的引物和高保真、热稳定的DNA聚合酶，在脱氧核苷酸和双脱氧核苷酸的特定混合物存在下，同时探测野生型和突变型靶DNA。引物被差异性延伸，产生的产物通过大小和染料标记来区分。野生型:突变型DNA比例由与电泳分离的反应产物相关的荧光强度确定。多个核苷酸位点可以用不同长度的独特标记引物同时进行检测。这种定量技术的应用在与阿尔茨海默病相关的线粒体DNA异质性点突变分析中得到了展示。
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