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There may be multiple variants of any given gene in the human population , a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations occurring during development and gene copy-number variation. [1]
Since mutation rate is relatively constant, roughly one half of these changes occurred in the human lineage. Only a very tiny fraction of those fixed differences gave rise to the different phenotypes of humans and chimpanzees and finding those is a great challenge. The vast majority of the differences are neutral and do not affect the phenotype.
Genetic variation is the difference in DNA among individuals [1] or the differences between populations among the same species. [2] The multiple sources of genetic variation include mutation and genetic recombination. [3] Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as ...
[37] [38] That is, the spectrum of mutation may become very important, particularly mutation biases, predictable differences in the rates of occurrence for different types of mutations, because bias in the introduction of variation can impose biases on the course of evolution. [39] Mutation plays a key role in other classical and recent ...
A mutation will increase genetic diversity in the short term, as a new gene is introduced to the gene pool. However, the persistence of this gene is dependent of drift and selection (see above). Most new mutations either have a neutral or negative effect on fitness, while some have a positive effect. [ 11 ]
However, many mutations in non-coding DNA have deleterious effects. [92] [93] Although both mutation rates and average fitness effects of mutations are dependent on the organism, a majority of mutations in humans are slightly deleterious. [94] Some mutations occur in "toolkit" or regulatory genes. Changes in these often have large effects on ...
Genetic variability is either the presence of, or the generation of, genetic differences. It is defined as "the formation of individuals differing in genotype, or the presence of genotypically different individuals, in contrast to environmentally induced differences which, as a rule, cause only temporary, nonheritable changes of the phenotype."
Incidental, or natural mutations occur through errors during replication and repair, either spontaneously or due to environmental stressors. Intentional modifications are done in a laboratory for various purposes, developing hardier seeds and plants, and increasingly to treat human disease. The use of gene editing technology remains controversial.