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Mutation

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Synonyms

Genetic mutation; Chromosomal mutation

Definition

Mutations are changes to the genetic material (usually DNA or RNA) that predispose the occurrence of a clinical phenotype (disease), i. e. pathogenic alterations. Mutations can be caused by copying errors during cell division or by the exposure to a multiplicity of endogenous or exogenous mutagens (radiation, chemicals, viruses). The mutational spectrum includes single base substitutions (point mutations), frameshift mutations (small insertions or deletions), microdeletions, and large-scale chromosomal alterations (deletions, duplications, rearrangements). If germ cells (sperms, oocytes) are affected by a mutation (germline mutation), this can be passed on to the next generation (hereditary disorders). In contrast, somatic mutations usually occur during lifetime de novoin somatic (non-germline) cells of an organism; they are not transmitted to descendants, but may lead to...

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© 2008 Springer-Verlag

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(2008). Mutation . In: Kirch, W. (eds) Encyclopedia of Public Health. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-5614-7_2269

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  • DOI: https://doi.org/10.1007/978-1-4020-5614-7_2269

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-1-4020-5613-0

  • Online ISBN: 978-1-4020-5614-7

  • eBook Packages: MedicineReference Module Medicine