The mutation rate is defined as the probability of a cell acquiring a mutation in a gene. This probability, abbreviated by the symbol “μ,” depends on specific parameters, such as the cell type and the gene, the effect of the mutation (e.g., gain of function, inactivation, or silent mutation), and the nature of the event (e.g., point mutation vs. translocation). Factors that influence μ include the fidelity of DNA polymerases, activity of repair pathways, and exposure to mutagens. μ can be expressed as the probability of a mutation occurring in a gene per cell division, as the probability of a mutation in a nucleotide pair per cell division, or as mutations per unit of time. A related parameter, the mutant frequency (f), represents the proportion of cells in a population harboring a mutation in a gene at any one point in time, whereas μ represents the rate of increase in fas a function of time or cell divisions. Because μ is typically a low number, it can be measured only...
KeywordsMutation Rate Fanconi Anemia Ataxia Telangiectasia Resistant Coloni Bulk Culture
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