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Induction of dominant mutations that cause skeletal malformations in mice
Author(s) -
Paul B. Selby
Publication year - 1978
Publication title -
environmental health perspectives
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.257
H-Index - 282
eISSN - 1552-9924
pISSN - 0091-6765
DOI - 10.1289/ehp.7824101
Subject(s) - mutation , biology , genetics , mutagenesis , genetic analysis , bioinformatics , computational biology , gene
A new approach for estimating genetic risk to humans from radiation is based upon an analysis of the frequency of induction of dominant mutations that cause skeletal abnormalities in mice. The main goal of this work is to improve estimates of the effect that an increase in the mutation frequency would have upon the incidence of serious genetic diseases in humans. The data obtained relate to dominant and irregularly inherited conditions in humans, which together constitute the great majority of human genetic diseases. The skeletal method could be used in chemical mutagenesis research in order to make a much more accurate risk-benefit analysis. A more likely application, however, is to provide a relatively quick and easy mammalian testing procedure for identifying mutagens. Dominant mutations at an unknown, but probably large, number of genetic loci could be detected. The relatively quick and easy procedure, which is described, has not yet been tested.

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