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 whic...

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Bibliographic Details
Published inCurrent protocols in human genetics Vol. Chapter 2; p. Unit 2.12
Main Authors Gabriel, Stacey, Ziaugra, Liuda, Tabbaa, Diana
Format Journal Article
LanguageEnglish
Published United States 01.01.2009
Subjects
Alleles
DNA Primers - genetics
Genotype
Oligonucleotide Array Sequence Analysis - methods
Polymerase Chain Reaction - methods
Polymorphism, Single Nucleotide
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods
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Summary: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.
ISSN:1934-8258
DOI:10.1002/0471142905.hg0212s60