title: High-throughput SNP genotyping with the Masscode system.
abstract: QIAGEN Genomics, Inc, has developed the Masscode tagging system for DNA labeling and detection. In this application, the Masscode system is described as applied to high-throughput single-nucleotide polymorphism (SNP) genotyping. The labeling system is based on a small-molecular-weight tag that is covalently attached through a photocleavable linker to a DNA oligonucleotide. The tagged oligonucleotide is used as a primer in an allele-specific PCR SNP discrimination assay. The allele-specific amplicons are differentiated through their Masscode tag assignments. After a photolysis step to cleave the tags from the amplicon, the samples are introduced into a single quadrupole mass spectrometry detection system for analysis. Genotyping determinations are based on the relative proportions of the paired allele tags. The system has a lower limit of detection in the femtomolar range (10(-15) M). At present, 30 different Masscode tags may be used simultaneously in a multiplex fashion to routinely provide more than 40,000 SNP genotyping measurements daily. Further developments will allow for the simultaneous detection of several hundred tags.
authors.affiliation: QIAGEN Genomics, Inc, 1725 220th St. SE, Ste 104, Bothell, WA 98021, USA. m.kokoris@qiagengenomics.com
authors.forename: M
authors.initials: M
authors.lastname: Kokoris
authors.forename: K
authors.initials: K
authors.lastname: Dix
authors.forename: K
authors.initials: K
authors.lastname: Moynihan
authors.forename: J
authors.initials: J
authors.lastname: Mathis
authors.forename: B
authors.initials: B
authors.lastname: Erwin
authors.forename: P
authors.initials: P
authors.lastname: Grass
authors.forename: B
authors.initials: B
authors.lastname: Hines
authors.forename: A
authors.initials: A
authors.lastname: Duesterhoeft
mesh_terms: D000483:Alleles; D020869:Gene Expression Profiling / Q000379:methods; D005838:Genotype; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020543:Proteome
chemical_list: D020543:Proteome