Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry

摘要: An approach to analyzing single-nucleotide polymorphisms (SNPs) found in the human genome has been developed that couples a recently invasive cleavage assay for nucleic acids with detection by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). The is signal amplification method enables analysis of SNPs MALDI-TOF MS directly from genomic DNA without need initial target PCR. results presented here show successful genotyping this twelve located randomly throughout genome. Conventional Sanger sequencing these SNP positions confirmed accuracy results. ability unambiguously detect both homozygous and heterozygous genotypes clearly demonstrated. elimination PCR, combined inherently rapid accurate nature MS, gives unique significant advantages high-throughput large numbers SNPs, useful locating, identifying, characterizing function specific genes.