SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform

The method for SNP genotyping described in this unit is based on the commercially available Sequenom MassARRAY platform. The assay consists of an initial locus‐specific PCR reaction, followed by single base extension using mass‐modified dideoxynucleotide terminators of an oligonucleotide primer which anneals immediately upstream of the polymorphic site of interest. Using MALDI‐TOF mass spectrometry, the distinct mass of the extended primer identifies the SNP allele. Curr. Protoc. Hum. Genet. 60:2.12.1‐2.12.18. © 2009 by John Wiley & Sons, Inc.