Abstract
The understanding of the molecular basis of genetic diseases requires the identification of the affected genes or their altered functions. For each disease, one of several strategies can be used to identify the affected gene. If the biochemical defect is known, the defective protein may be immediately identified. A second strategy may involve examining known genes that have been characterized to be physiologically compatible with being the cause of a disease; these candidate genes are then tested for the presence of mutations in affected individuals. Finally, if the biochemical defect is unknown, a disease gene may be identified on the basis of its chromosomal location. In this approach, a candidate region on a chromosome must first be defined, either by linkage studies of the affected families with DNA markers or by association of chromosomal rearrangements with disease. Once a region has been identified, efforts can be directed toward isolating genes originating from this marked interval. Their candidacy can then be evaluated by examining the gene in affected individuals.
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Roux, AF., Rommens, J., Musarella, M.A. (1993). Studies Toward the Isolation of the RP3 Gene. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_15
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DOI: https://doi.org/10.1007/978-1-4615-2974-3_15
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