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November 03, 2010
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Genetic associations often remain unexplained at a functional level. This method aims to assess the effect of phenotype-associated genetic markers on gene expression by analyzing cells heterozygous for transcribed SNPs. The technology allows accurate measurement by MALDI-TOF mass spectrometry to quantify allele-specific primer extension products.
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Allele-specific Gene Expression AssayGenetic AssociationsMolecular Level UnderstandingGene Expression MechanismDNA VariantsPhenotypesRelative Abundance Of TranscriptsRisk VariantsHeterozygous CellsDNA MarkersAllele FrequencyHaplotypic RelationshipCell TypesNucleic Acid ExtractionFibroblastsPrimary Cells
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Paracchini, S., Monaco, A. P., Knight, J. C. An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations. J. Vis. Exp. (45), e2279, doi:10.3791/2279 (2010).
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