Analysis of Single Nucleotide Polymorphism in Human Paraoxonase 1 Gene(Q192R) with Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry

摘要

Introduction Single nucleotide polymorphisms(SNPs) are themost abundant DNA markers in the human genome oc-curring at a frequency of one in every 500—1000 nu-cleotides[1]. A variety of methods have been used forthe analysis of single nucleotide polymorphisms, inclu-ding restriction fragment length polymorphism(RFLP)[2], direct sequencing by using laser-inducedfluorescence detection[3], fluorescence energy trans-fer[4], MALDI-TOF MS combined with primer exten-sion or invasive cleavage[5,6], and fluorescence polari-zation[7]. During the past two decades, mass spectro-metry has become a very popular tool in the analysis ofbiomolecules and is perfectly suited to the analysis ofsingle nucleotide polymorphisms ( SNPs) due to itsspeed, lowcost, and accuracy.