The use of MassARRAY technology for high throughput genotyping

• Published in: Advances in biochemical engineering, biotechnology Vol. 77; p. 57
• Main Authors: Jurinke, Christian, van den Boom, Dirk, Cantor, Charles R, Köster, Hubert
• Format: Journal Article
• Language: English
• Published: Germany 2002
• Subjects: Databases, Nucleic Acid; Equipment Design; Human Genome Project; Humans; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide - genetics; Sequence Analysis, DNA - instrumentation; Sequence Analysis, DNA - methods; Species Specificity; Spectrometry, Mass, Electrospray Ionization - instrumentation; Spectrometry, Mass, Electrospray Ionization - methods; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - instrumentation; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - trends; Tandem Repeat Sequences - genetics
• ISSN: 0724-6145
• DOI: 10.1007/3-540-45713-5_4

This chapter will explore the role of mass spectrometry (MS) as a detection method for genotyping applications and will illustrate how MS evolved from an expert-user-technology to a routine laboratory method in biological sciences. The main focus will be time-of-flight (TOF) based devices and their use for analyzing single-nucleotide-polymorphisms (SNPs, pronounced snips). The first section will describe the evolution of the use of MS in the field of bioanalytical sciences and the protocols used during the early days of bioanalytical MALDI TOF mass spectrometry. The second section will provide an overview on intraspecies sequence diversity and the nature and importance of SNPs for the genomic sciences. This is followed by an exploration of the special and advantageous features of mass spectrometry as the key technology in modern bioanalytical sciences in the third chapter. Finally, the fourth section will describe the MassARRAY technology as an advanced system for automated high-throughput analysis of SNPs.