Environ Health Perspect. 1978 Jun;24:101-3. doi: 10.1289/ehp.7824101.
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.
一种新的评估辐射对人类遗传风险的方法是基于对导致老鼠骨骼畸形的显性突变频率的分析。这项工作的主要目标是改进对突变频率增加对人类严重遗传疾病发病率的影响的估计。所获得的数据涉及人类显性和不规则遗传疾病,这些疾病共同构成了人类遗传疾病的绝大多数。骨骼方法可用于化学诱变研究,以便更准确地进行风险效益分析。然而,更有可能的应用是提供一种相对快速和简单的哺乳动物测试程序,以识别诱变剂。可以检测到大量未知(但可能很大)遗传基因座的显性突变。本文所描述的相对快速和简单的程序尚未经过测试。