Disease‐related Genes: Identification

Abstract

The identification of a disease gene is a crucial step in the development of diagnostic procedures and in the understanding of the pathogenetic mechanisms underlying the disease. Strategies for the identification of genes involved in the pathogenesis of human disease can involve either those used in the presence of known loci (mainly positional candidate genes) or those used when the locus is unknown (functional cloning and candidate genes).

Keywords: disease gene; candidate gene; positional candidate genes; functional cloning; mutation analysis

Figure 1.

Schematic of the strategies most commonly used for disease gene identification.

Figure 2.

Schematic of the positional candidate approach. When a new disease locus is assigned to a chromosomal region (see middle panel), candidate genes from the same region are evaluated. The features of these candidate genes are compared with the features of that particular disease in order to determine possible matches. Similarly, when a new gene is assigned to a chromosomal region, candidate diseases are analyzed by an analogous process. (Reprinted with permission from Ballabio .)

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Web Links

Human Genome Browser Gateway (University of California Santa Cruz) http://genome.ucsc.edu/cgi‐bin/hgGateway?org=Human

Ensembl Genome Browser (Sanger Institute) http://www.ensembl.org/Homo_sapiens/

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How to Cite close
Banfi, Sandro, and Ballabio, Andrea(Jan 2006) Disease‐related Genes: Identification. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005484]