RAPID, ACCURATE IDENTIFICATION OF DNA SEQUENCE VARIANTS BY ELECTROSPRAY MASS SPECTROMETRY

摘要

A method of detecting a polymorphism at a polymorphic site in the genome of anindividual is described. The method involves amplifying a portion of a genomicDNA sample by polymerase chain reaction to produce an amplified segment thatcontains the polymorphic site, desalting the amplified segment, anddetermining the mass of the amplified segment by electrospray ionization massspectrometry. Comparison of the mass of the amplified segment to a referencemass permits detection of the presence or absence of the polymorphism. Methodsfor heterozygosity and disease inheritance by mass spectrometry are alsodescribed. The figure shows the molecular weight transform spectrum obtainedfrom the mass-to-charge spectrum of a 53-base oligonucleotide.