Chip-based genotyping by mass spectrometry

作者：Kai Tang, Dong‐Jing Fu, Dominique Julien, Andreas Dominik Braun, Charles R. Cantor, Hubert Köster · 发表于：Proceedings of the National Academy of Sciences · 年份：1999 · DOI：10.1073/pnas.96.18.10016 · 被引用次数：287 · 研究领域：Molecular Biology Techniques and Applications、Advanced biosensing and bioanalysis techniques、Mass Spectrometry Techniques and Applications

Silicon chips with immobilized target DNAs were used for accurate genotyping by mass spectrometry. Genomic DNAs were amplified with PCR, and the amplified products were covalently attached to chip wells via N-succinimidyl (4-iodoacetyl)aminobenzoate (SIAB) chemistry. Primer annealing, extension, and termination were performed on a 1-microl scale directly in the chip wells in parallel. Diagnostic products thus generated were detected in situ by using matrix-assisted laser desorption ionization mass spectrometry. This miniaturized method has the potential for accurate, high-throughput, low-cost identification of genetic variations.