Genetic load is the difference between the fitness of an average genotype in a population and the fitness of some reference genotype, which may be either the best present in a population, or may be the theoretically optimal genotype. The average individual taken from a population with a low genetic load will generally, when grown in the same conditions, have more surviving offspring than the average individual from a population with a high genetic load. Genetic load can also be seen as reduced fitness at the population level compared to what the population would have if all individuals had the reference high-fitness genotype. High genetic load may put a population in danger of extinction.
Consider n genotypes , which have the fitnesses and frequencies , respectively. Ignoring frequency-dependent selection, the genetic load may be calculated as:
where is either some theoretical optimum, or the maximum fitness observed in the population. In calculating the genetic load, must be actually found in at least a single copy in the population, and is the average fitness calculated as the mean of all the fitnesses weighted by their corresponding frequencies:
where the genotype is and has the fitness and frequency and respectively.
One problem with calculating genetic load is that it is difficult to evaluate either the theoretically optimal genotype, or the maximally fit genotype actually present in the population. This is not a problem within mathematical models of genetic load, or for empirical studies that compare the relative value of genetic load in one setting to genetic load in another.
Deleterious mutation load is the main contributing factor to genetic load overall. The Haldane-Muller theorem of mutation–selection balance says that the load depends only on the deleterious mutation rate and not on the selection coefficient. Specifically, relative to an ideal genotype of fitness 1, the mean population fitness is where U is the total deleterious mutation rate summed over many independent sites.
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Inbreeding depression is the reduced biological fitness which has the potential to result from inbreeding (the breeding of related individuals). Biological fitness refers to an organism's ability to survive and perpetuate its genetic material. Inbreeding depression is often the result of a population bottleneck. In general, the higher the genetic variation or gene pool within a breeding population, the less likely it is to suffer from inbreeding depression, though inbreeding and outbreeding depression can simultaneously occur.
The effective population size (Ne) is a number that, in some simplified scenarios, corresponds to the number of breeding individuals in the population. More generally, Ne is the number of individuals that an idealised population would need to have in order for some specified quantity of interest (typically change of genetic diversity or inbreeding rates) to be the same as in the real population. Idealised populations are based on unrealistic but convenient simplifications such as random mating, simultaneous birth of each new generation, constant population size, and equal numbers of children per parent.
A population bottleneck or genetic bottleneck is a sharp reduction in the size of a population due to environmental events such as famines, earthquakes, floods, fires, disease, and droughts; or human activities such as specicide, widespread violence or intentional culling, and human population planning. Such events can reduce the variation in the gene pool of a population; thereafter, a smaller population, with a smaller genetic diversity, remains to pass on genes to future generations of offspring through sexual reproduction.
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