Abstract
A better understanding of the molecular basis of human hereditary disease could be reached by the isolation and characterization of the genes involved. Some studies have approached this problem through genetic linkage analysis: localizing the gene to a particular area of a chromosome and then using techniques such as chromosome walking to identify the gene of interest. This type of analysis is time consuming and labor intensive, and requires access to large numbers of affected families and suitable DNA probes. Certain hereditary diseases offer an alternative approach for gene cloning because they exhibit correctable phenotypes in cultured cells. For example, xeroderma pigmentosum (XP), ataxia telangiectasia (AT), Cockayne’s syndrome and Fanconi’s anemia all display hypersensitivity to various DNA-damaging agents which can be complemented in vitro (1). Unfortunately, attempts to clone these genes through the technique of DNA transfection have met with little success, probably due to the inefficiency of human cells in the uptake and stable expression of large amounts of exogenous DNA (2-4).
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Henning, K.A., Lambert, C., Schultz, R.A., Friedberg, E.C. (1991). Phenotypic Complementation of Cells from Human Hereditary Diseases with Defects in Cellular Responses to DNA Damage, by Single Human Chromosomes. In: Nygaard, O.F., Upton, A.C. (eds) Anticarcinogenesis and Radiation Protection 2. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-3850-9_4
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