Analysis of single nucleotide polymorphisms using mass spectrometry

摘要

The invention relates to a method of investigating by mass spectrometry the genetic material deoxyribonucleic acid (DNA) replicated by polymerase chain reaction (PCR), for the identification of known mutations and polymorphisms; it particularly relates to the analysis of single nucleotide polymorphisms (SNPs) by matrix assisted laser desorption and ionization (MALDI).The invention consists of using a set of nucleoside triphosphates for the selective PCR replication of the DNA in which one or more of the nucleoside triphosphates have been made much heavier by attaching a chemical group, but in such a way that the replication is not disturbed by the polymerase. In this way a single nucleotide polymorphism in DNA pieces with a length of about 40 to 50 bases can very easily be made visible by mass spectrometry without any further manipulation.