使用热稳定DNA聚合酶和延迟提取基质辅助激光解吸电离飞行时间质谱法的单核苷酸多态性鉴定分析
Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry.
作者信息
Haff L A, Smirnov I P
机构信息
PerSeptive Biosystems, Framingham, Massachusetts 01701, USA.
出版信息
Genome Res. 1997 Apr;7(4):378-88. doi: 10.1101/gr.7.4.378.
Abstract
We report a simple method, the PinPoint assay, for detecting and identifying single-base variations (polymorphisms) at specific locations within DNA sequences. An oligonucleotide primer is annealed to the target DNA immediately upstream of the polymorphic site and is extended by a single base in the presence of all four dideoxynucleotide triphosphates and a thermostable DNA polymerase. The extension products are desalted, concentrated, and subjected to delayed-extraction MALDI-TOF mass spectrometry. The base at the polymorphic site is identified by the mass added onto the primer. Heterozygous targets produce two mass-resolved species that represent the addition of both bases complementary to those at the polymorphic site. The assay is suitable for double-stranded PCR products without purification or strand separation. More than one primer can be simultaneously extended and then mass-analyzed. The mass spectrometric method thus shows promise for high-volume diagnostic or genotyping applications.
摘要
我们报告了一种简单的方法——PinPoint分析法，用于检测和识别DNA序列中特定位置的单碱基变异（多态性）。将一个寡核苷酸引物与多态性位点上游紧邻的目标DNA退火，并在所有四种双脱氧核苷酸三磷酸和一种热稳定DNA聚合酶存在的情况下延伸一个碱基。延伸产物经脱盐、浓缩后，进行延迟提取基质辅助激光解吸电离飞行时间质谱分析。通过添加到引物上的质量来鉴定多态性位点处的碱基。杂合靶标产生两个质量可分辨的物种，代表与多态性位点处碱基互补的两个碱基的添加。该分析方法适用于未经纯化或链分离的双链PCR产物。可以同时延伸多个引物，然后进行质谱分析。因此，这种质谱方法在大规模诊断或基因分型应用中显示出前景。
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