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Gene or Point Mutations

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Mutations in Man

Abstract

Subdivision of mutations into chromosome and genome mutations, on the one hand, and gene or point mutations, on the other, goes back to a time when the microscope was the only technical means for visualizing genetic changes directly and the genetic code was still unknown. Mutations identified not directly by examining the chromosomes themselves, but only indirectly, from their effects on the phenotype, were named “gene or point mutations”. Meanwhile, this distinction has been blurred somewhat since we have learned that point mutations comprise a variety of different events at the molecular level, for example single base substitutions (“point mutations in the strict sense”), small deletions sometimes leading to frame shifts; chain elongations; or molecular recombinations. Still, the notion of “point mutation” remains useful for many practical purposes, provided that one keeps in mind that it describes reality at a somewhat preliminary level.

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Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik, University of Heidelberg, Im Neuenheimer Feld 328, 6900, Heidelberg, Germany

    F. Vogel

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  1. F. Vogel
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  1. Institut für Genetik, Freie Universität Berlin, Arnimallee 5-7, 1000, Berlin 33, Germany

    Günter Obe

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Vogel, F. (1984). Gene or Point Mutations. In: Obe, G. (eds) Mutations in Man. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-69530-8_5

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  • DOI: https://doi.org/10.1007/978-3-642-69530-8_5

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