An allele-specific gene expression assay to test the functional basis of genetic associations.

Journal article

The number of significant genetic associations with common complex traits is constantly increasing. However, most of these associations have not been understood at molecular level. One of the mechanisms mediating the effect of DNA variants on phenotypes is gene expression, which has been shown to be particularly relevant for complex traits. This method tests in a cellular context the effect of specific DNA sequences on gene expression. The principle is to measure the relative abundance of tra...

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Authors: Paracchini, S; Monaco, A; Knight, J

• Journal: Journal of visualized experiments : JoVE
• Issue: 45
• Pages: 104
• Publication date: 2010-01-01
• DOI: 10.3791/2279
• EISSN: 1940-087X
• ISSN: 1940-087X
• Language: English
• Keywords: DNA; Gene Expression; Humans; Polymerase Chain Reaction; Alleles; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization