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

Article DOI: 10.3791/2279-v 10:18 min November 3rd, 2010
November 3rd, 2010

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Summary

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Click here for the English version.

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.

Tags

Allele-specific Gene Expression Assay Genetic Associations Molecular Level Understanding Gene Expression Mechanism DNA Variants Phenotypes Relative Abundance Of Transcripts Risk Variants Heterozygous Cells DNA Markers Allele Frequency Haplotypic Relationship Cell Types Nucleic Acid Extraction Fibroblasts Primary Cells
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