The idea that deaf intermarriage increases deafness was forcefully pushed in the late 19th century by Alexander Graham Bell, in proceedings published by the National Academy of Science. Bell's hypothesis was not supported by a 19th century study by Edward Allen Fay, which was funded by Bell's own organization, the Volta Bureau. The Fay study showed through an analysis of 4,471 deaf marriages that the chances of having deaf children did not increase significantly when both parents were deaf. In light of an apparent increase in non-complementary pairings when a recent dataset of Gallaudet alumni was compared with the 19th century Fay dataset, Bell's argument has been resurrected that residential schools for the deaf, which concentrate signing deaf individuals together, have promoted assortative mating and increased the prevalence of both phenotypic deafness and the commonest recessive deafness allele. Because this hypothesis persists, even though it contradicts classical models introduced by R.A. Fisher and Sewell Wright, it is critically important that this hypothesis be thoroughly re-investigated. In this study, we used an established forward-time genetics simulator with parameters and measurements collected from the published literature. Compared to mathematical equations, simulations allowed for more complex modeling, operated without assumptions of parametricity, and captured ending distributions and variances. Our simulation results affirm predictions from classical equations and show that assortative mating only modestly increases the prevalence of phenotypically deaf individuals, with this effect mostly completed by the third generation. Most importantly, our data show that even intense assortative mating does not increase allelic frequency under reported conditions. These results are not locus-specific and are generalizable to other forms of recessive deafness. We offer alternative explanations for the higher rate of non-complementary pairings measured in the contemporary Gallaudetalumni sample as compared to the Fay dataset.

中文翻译：

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耳聋通婚不会增加耳聋等位基因的患病率

聋人通婚增加了耳聋的想法在19世纪末由亚历山大·格雷厄姆·贝尔（Alexander Graham Bell）在美国国家科学院（National Academy of Sciences）发表的论文中有力地提出。贝尔的假设不受19世纪爱德华·艾伦·费伊（Edward Allen Fay）研究的支持，该研究由贝尔自己的组织伏打局（Volta Bureau）资助。费伊研究通过对4,471例聋哑婚姻的分析表明，当父母双方均为聋哑时，生下聋哑儿童的机会不会显着增加。鉴于将Gallaudet校友的最新数据集与19世纪Fay数据集进行比较时，非互补配对的明显增加，Bell的论点已复活，即聋人的寄宿学校集中了聋人的签名，已经促进了分类交配并增加了表型性聋和最常见的隐性性聋等位基因的患病率。因为这个假设仍然存在，即使它与RA Fisher和Sewell Wright引入的经典模型相矛盾，所以对这一假设进行彻底的重新研究至关重要。在这项研究中，我们使用了已建立的实时遗传学模拟器，该模拟器具有从已发表的文献中收集的参数和测量值。相较于数学方程式，仿真允许进行更复杂的建模，无需假设参数即可进行操作，并捕获最终的分布和方差。我们的模拟结果肯定了经典方程式的预测结果，并表明分类交配只会适度增加表型聋个体的患病率，这种效果大部分由第三代人完成。最重要的是，我们的数据表明，即使在报道的条件下强烈的交配也不会增加等位基因的频率。这些结果不是特定于地点的，并且可以推广到其他形式的隐性耳聋。对于当代的Gallaudetalumni样本中比Fay数据集更高的非互补配对比率，我们提供了其他解释。