Unit

UNIT 2.12 SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform

  1. Stacey Gabriel,
  2. Liuda Ziaugra,
  3. Diana Tabbaa

Published Online: 1 JAN 2009

DOI: 10.1002/0471142905.hg0212s60

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Gabriel, S., Ziaugra, L. and Tabbaa, D. 2009. SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform. Current Protocols in Human Genetics. 60:2.12:2.12.1–2.12.16.

Author Information

  1. Broad Institute of MIT and Harvard, Cambridge, Massachusetts

Publication History

  1. Published Online: 1 JAN 2009
  2. Published Print: JAN 2009

Abstract

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.

Keywords:

  • genotyping;
  • SNP;
  • MassARRAY;
  • high-throughput;
  • PCR