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Published on: August 24, 2013
Identification of disease genes by positional cloning
A G Menon1, C A Klanke, Y R Su
1Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati Medical Center, Cincinnati, OH 45267-0524, USA.
Abstract:
Positional cloning or reverse genetics is a combination of techniques that has been extraordinarily successful in finding the genes that cause many inherited disorders, including some that affect the cardiovascular system. This approach consists of finding a DNA marker that cosegregates with the disorder and then using the tools of molecular biology to examine systematically the DNA in the vicinity of such a marker until the gene is identified. In addition to the availability of preclinical diagnostic tests for individuals at risk, the identification of such genes might also provide the basis for targeted drug design. In the longer term, with the emerging technologies for the delivery of genes into cells, finding the genes that cause inherited disorders raises the possibility of eventual therapeutic intervention.
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