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Publisher Summary This chapter discusses the need for determining the human mutation rate, available and proposed methodologies for such studies, and estimates of the mutation rate and the potential health burden associated with an increased mutation rate. The need for the estimates of human germinal mutation rates arises in three forms, each imposing constraints on acceptable methodology for obtaining the estimate. In the first, the goal is to define the mutation rate, the associated health burden, and the spectrum of spontaneous germinal mutational lesions in presumably unexposed subjects. In the second case, the goal is to monitor the suspected increase in mutation rate in populations exposed to known or suspected genotoxic agents. In the third case, as most of the human risk estimates will be derived from data generated in model systems and test animals, rather than from data derived from the studies of human populations, the databases generated in human studies must serve as reference points for extrapolation from test systems. A technique that detects only base substitution events misses a significant increase in the mutation rate if an agent induces primarily gene deletions or rearrangements. |
