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Chromosomal Instability Syndromes in Man

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Advances in Mutagenesis Research

Part of the book series: Advances in Mutagenesis Research ((MUTAGENESIS,volume 3))

Abstract

One main aim of mutagenesis research is to evaluate the potential genetic hazard of physical or chemical agents to human beings. In many countries risk assessment of a supposed mutagen is strictly regulated demanding, among others, the application of a set of different “in vitro” tests. However, this approach has the inherent drawback that extrapolation of the data becomes necessary. Even when obtained in human systems, the well-known individual differences in response to mutagenic challenges forbid simple comparisons. Thus, the cellular sensitivity to X-rays as a physical mutagen varies in a normal human population by almost a factor of two (Cox and Masson 1980; Little et al. 1988; Thacker 1989) and treatment of cancer patients with an identical therapeutic regimen of clastogens leads to significant differences in the extent of chromosome damage induced by these chemical mutagens (Gebhart 1984). There is no doubt that genetic factors, for example, effectivity in the metabolization of mutagens and in the repair of the DNA lesions, play a crucial role in the varying damage suffered by genetically distinct cells exposed to an identical dose of a mutagen. In the absence of sufficient molecular data about such genes, as is commonly the case, the use of — in practice mostly cytogenetic — indicators to estimate their activity is an urgent need for mutagenesis research, in general, and for an improved individual risk assessment, in particular. Here, the interests of mutagenesis research and human genetics converge.

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  1. Institute of Human Genetics, Free University Berlin, Heubnerweg 6, 1000, Berlin 19, Germany

    R.-D. Wegner

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    Günter Obe

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Wegner, RD. (1991). Chromosomal Instability Syndromes in Man. In: Obe, G. (eds) Advances in Mutagenesis Research. Advances in Mutagenesis Research, vol 3. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-76232-1_4

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