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JoVE Journal
Biology

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
 

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Article DOI: 10.3791/2279
November 3rd, 2010

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Summary November 3rd, 2010

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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