Simultaneous genotyping of indels and SNPs by mass spectroscopy

  • Takuro Sasayama
  • Mayu Kato
  • Hiroyuki Aburatani
  • Akinori Kuzuya
  • Makoto Komiyama
Articles

DOI: 10.1016/j.jasms.2005.08.016

Cite this article as:
Sasayama, T., Kato, M., Aburatani, H. et al. J Am Soc Mass Spectrom (2006) 17: 3. doi:10.1016/j.jasms.2005.08.016

Abstract

Nucleotide insertion/deletion polymorphisms (indels) in ApoE gene were precisely genotyped using artificial ribonucleases and MALDI-TOF MS. The RNA fragments for MS analysis were prepared by treating RNA specimens with our artificial ribonucleases, which consist of LuCl3 (molecular scissors) and oligonucleotides bearing two acridine groups (RNA-activator for site-selective scission). RNA scission by Lu(III) ion always occurred at the phosphodiester linkages in front of the two acridines, even when the RNA specimens involved consecutive cytidine sequences of different lengths. Thus, even complicated mixtures of these indel specimens were completely genotyped by using only one acridine-bearing oligonucleotide and by subjecting the reaction mixture to single MS measurement. Moreover, single nucleotide polymorphism (SNP) in the consecutive sequences could be genotyped simultaneously with the indels.

Copyright information

© American Society for Mass Spectrometry 2005

Authors and Affiliations

  • Takuro Sasayama
    • 1
  • Mayu Kato
    • 1
  • Hiroyuki Aburatani
    • 1
  • Akinori Kuzuya
    • 1
  • Makoto Komiyama
    • 1
  1. 1.Research Center for Advanced Science and TechnologyThe University of TokyoTokyoJapan

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