High Throughput Genotyping of Cyp2c9 Snps Using Biotinylated Ddntps and Maldi-Tof MS

摘要

We report here high throughput SNP genotyping of the CYP2C9 gene using SPC-SBE (Kim et al., Nucleic Acids Res., 2002), a MALDI-TOF mass spectrometry-based genotyping method. SPC-SBE involves multiplex single base extension (SBE) using biotinylated dideoxynucleotides, and subsequent separation of DNA extension fragments using solid phase capture (SPC). Previously, simultaneous screening of the p53 gene for 30 mutation sites by the SPC-SBE approach has been shown (Kim et al., Nature Reviews Genetics, 2003), however, analysis of SNPs at a similar multiplexing level has not been reported.