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

DOI :

10.3791/2279-v

10:17 min

November 3rd, 2010

November 3rd, 2010

22,426 Views

1Wellcome Trust Centre for Human Genetics, University of Oxford

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 Assay

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