论文标题
随机交配种群中隐性疾病的患病率较低，是生长期和之后的短暂现象
A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase
论文作者
论文摘要
尽管从人口范围的测序研究中增加了数据，但仍在争论近亲伙伴关系中隐性疾病的风险。理论上尚未充分研究的一个重要方面是，当人口大小变化时，近交对突变负荷和发病率的影响。因此，我们开发了一个模型来研究这些动态，以针对广泛的生长和交配条件进行研究。在人口扩张的阶段，不久之后，我们的模拟表明，患病的个体下降了，而牺牲了随机交配的突变负载增加，而在高度亲密的伙伴关系中，这两个参数几乎保持恒定。这解释了当今的经验观察，即高度血缘关系与常染色体隐性疾病的风险增加有关。然而，它还指出，在再次达到突变选择平衡之前，近交性种群发育延迟的严重隐性疾病的频率较高。
Despite increasing data from population-wide sequencing studies, the risk for recessive disorders in consanguineous partnerships is still heavily debated. An important aspect that has not sufficiently been investigated theoretically, is the influence of inbreeding on mutation load and incidence rates when the population sizes change. We therefore developed a model to study these dynamics for a wide range of growth and mating conditions. In the phase of population expansion and shortly afterwards, our simulations show that there is a drop of diseased individuals at the expense of an increasing mutation load for random mating, while both parameters remain almost constant in highly consanguineous partnerships. This explains the empirical observation in present times that a high degree of consanguinity is associated with an increased risk of autosomal recessive disorders. However, it also states that the higher frequency of severe recessive disorders with developmental delay in inbred populations is a transient phenomenon before a mutation-selection balance is reached again.
