JMSSJ On-line

JMSSJ On-line, Vol. 51 (2003) No. 2, pp. 368-373

Genome Analysis by Mass Spectrometry: SNP Genotyping		>> Full Text PDF >> References
Yoshinao WADA ^a)Osaka Medical Center and Research Institute for Maternal and Child Health (840 Murodo-machi, Izumi 594-1101, Japan)

Mass spectrometry (MS) is proud of its high-throughput and sensitivity in the proteomic studies. However, the measurement of DNA by MS has not been in practice mainly due to its inherently large molecular size, though various applications of genetic analysis have been proposed so far. Now in the post-genome era, one of the highest demands on the genome analysis is the single nucleotide polymorphism genotyping, which is, in principle, the determination of single nucleotide substitutions at specific sites. A number of different methods using MS have been developed for this purpose, and some of those enabling multiplex analysis have advantages over other gel- or hybridization-based methods.

Key words: DNA, Single nucleotide polymorphism, Primer extension