Matsunaga E
Mutat Res. 1983 Apr;114(3):449-57. doi: 10.1016/0165-1110(83)90040-4.
We do not know how many mutations are being produced in human populations by exposure to environmental mutagens. If these mutagens caused a persistent rise in mutation rates, then ultimately there would be a proportional increase in the frequency of a variety of genetic diseases, including those that are difficult to treat and that require life-long care of affected individuals. In contrast, modern medical practices are relaxing selection pressure selectively with respect to disease, leading to a gradual increase in the frequency of certain genetic and partly genetic diseases that can be effectively treated. The pattern of this increase would differ from condition to condition, depending upon the mode of inheritance and the extent to which selection is relaxed; except for some special cases, the anticipated increase would generally be slow. Additional economic burdens on future society and families imposed by relaxed selection would mainly involve expenditures for relatively inexpensive treatments, and not those for expensive life-long care. Moreover, individuals treated successfully can be expected to contribute productively to society. With education and counseling for those who survive serious dominant and X-linked disorders, and with the development of accurate, inexpensive prenatal diagnosis, the presumed dysgenic effects of relaxed selection could be balanced.
我们不知道人类群体因接触环境诱变剂而产生了多少突变。如果这些诱变剂导致突变率持续上升,那么最终各种遗传疾病的发生率将会相应增加,包括那些难以治疗且需要对患者进行终身护理的疾病。相比之下,现代医疗实践正在有选择地减轻对疾病的选择压力,导致某些能够有效治疗的遗传和部分遗传疾病的发生率逐渐上升。这种上升模式因疾病而异,取决于遗传方式以及选择压力减轻的程度;除了一些特殊情况外,预计这种上升通常会很缓慢。选择压力减轻给未来社会和家庭带来的额外经济负担主要涉及相对便宜的治疗费用,而非昂贵的终身护理费用。此外,成功接受治疗的个体有望为社会做出有成效的贡献。通过对患有严重显性和X连锁疾病的幸存者进行教育和咨询,以及开发准确、廉价的产前诊断方法,选择压力减轻可能产生的不良遗传影响可以得到平衡。