@article{Haff01041997,
author = {Haff, Lawrence A. and Smirnov, Igor P.}, 
title = {Single-Nucleotide Polymorphism Identification Assays Using a Thermostable DNA Polymerase and Delayed Extraction MALDI-TOF Mass Spectrometry},
volume = {7}, 
number = {4}, 
pages = {378-388}, 
year = {1997}, 
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.}, 
URL = {http://genome.cshlp.org/content/7/4/378.abstract}, 
eprint = {http://genome.cshlp.org/content/7/4/378.full.pdf+html}, 
journal = {Genome Research} 
}