Phelps FM I V
IMA J Math Appl Med Biol. 1995;12(1):1-11. doi: 10.1093/imammb/12.1.1.
In this paper a general model is given for the evolution of the genome incorporating stochastic factors. The model is applied to the substitutional genetic load problem. All of the major hard selection load formulae in the literature are extended and, where necessary, corrected (for stochasticity). Turning to rank selection, formulae for stochastic factors are also corrected and harmful mutations included. A simple formula for the selection coefficient as a function of the nonneutral substitution rate and the mutation profile is obtained. Further, it is noted that the formulae derived also apply (for different parameter values) to the mutation load, thus unifying the two loads under a single theory. A general formula for the mutation load under hard selection is given, extending previous results. Finally, the author derives a formula showing how many harmful mutations can be effectively eliminated by rank selection and discusses its relevance to the question of the possible buildup of harmful mutations in the human gene pool due to long-term exposure to low-level radiation.
本文给出了一个包含随机因素的基因组进化通用模型。该模型应用于替换性遗传负荷问题。文献中所有主要的硬选择负荷公式都得到了扩展，并在必要时（针对随机性）进行了修正。对于等级选择，随机因素的公式也进行了修正，并纳入了有害突变。得到了一个作为非中性替换率和突变谱函数的选择系数的简单公式。此外，还指出所推导的公式（对于不同的参数值）也适用于突变负荷，从而在单一理论下统一了这两种负荷。给出了硬选择下突变负荷的通用公式，扩展了先前的结果。最后，作者推导了一个公式，表明等级选择可以有效消除多少有害突变，并讨论了其与由于长期暴露于低水平辐射导致人类基因库中有害突变可能积累问题的相关性。
