Ann Hum Genet. 1975 Jan;38(3):333-40. doi: 10.1111/j.1469-1809.1975.tb00618.x.
The means and standard errors of the total numbers of heterozygotes and homozygotes affected by deleterious mutant genes and the extinction time are studied by using diffusion methods. For an overdominant mutation, the effects of an increase in population size on these quantitites are much more profound than that of an increase in initial number of mutant genes whereas for a partially recessive mutation the situation is reversed. For a completely recessive mutation, the expected total number of mutant homozygotes is independent of the population size and degree of inbreeding, though the expected total number of heterozygotes and the average extinction time are dependent on these factors, particularly the population size. The effect of inbreeding on these quantitites is very similar to that of reduction in effective population size and is usally small at the prevailing level of inbreeding, except for mutations with large degrees of overdominance in large populations. The standard errors of these quantities are large. The expected total number of sickle-cell mutant homozygotes in the U.S. population has been computed.
利用扩散方法研究了受有害突变基因影响的杂合子和纯合子总数的均值和标准误差以及灭绝时间。对于超显性突变，种群大小增加对这些数量的影响比对突变基因初始数量增加的影响要深远得多，而对于部分隐性突变，情况则相反。对于完全隐性突变，突变纯合子的预期总数与种群大小和近亲繁殖程度无关，尽管杂合子的预期总数和平均灭绝时间取决于这些因素，尤其是种群大小。近亲繁殖对这些数量的影响与有效种群大小的减少非常相似，并且在当前近亲繁殖水平下通常较小，除了在大种群中具有高度超显性的突变。这些数量的标准误差很大。已经计算出美国人群中镰状细胞突变纯合子的预期总数。
