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The human germline mutation rate is approximately 0.5×10 −9 per basepair per year. [1] In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, or organism over time. [2] Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of mutations.
It can also be biased by violation of the infinite-sites mutational model; if multiple mutations can overwrite one another, Watterson's estimator will be biased downward. Comparing the value of the Watterson's estimator, to nucleotide diversity is the basis of Tajima's D which allows inference of the evolutionary regime of a given locus.
The rate of mutation within a population can be estimated using the Watterson estimator formula: θ=4Ν e μ, where Ν e is the effective population size and μ is the mutation rate (substitutions per site per unit of time). [4] Hudson et al. proposed applying these variables to a chi-squared, goodness-of-fit test.
These rates are likely to differ in non experimental settings. The models also require that N t μ >> 1 where N t is the total number of organisms. This assumption is likely to hold in most realistic or experimental settings. Luria and Delbrück [5] estimated the mutation rate (mutations per bacterium per unit time) from the equation
Mutation frequencies test are cost effective in laboratories [1] however; these two concepts provide vital information in reference to accounting for the emergence of mutations on any given germ line. [2] [3] There are several test utilized in measuring the chances of mutation frequency and rates occurring in a particular gene pool.
In order to quantify the number of substitutions, one may reconstruct the ancestral sequence and record the inferred changes at sites (straight counting – likely to provide an underestimate); fitting the substitution rates at sites into predetermined categories (Bayesian approach; poor for small data sets); and generating an individual ...
Estimates of the mutation rate of human mitochondrial DNA (mtDNA) vary greatly depending on the available data and the method used for estimation. The two main methods of estimation, phylogeny-based methods and pedigree-based methods, have produced mutation rates that differ by almost an order of magnitude. Current research has been focused on ...
Mutation will have a very subtle effect on allele frequencies through the introduction of new allele into a population. Mutation rates are of the order 10 −4 to 10 −8, and the change in allele frequency will be, at most, the same order. Recurrent mutation will maintain alleles in the population, even if there is strong selection against them.