Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population

Abstract

The observation of high frequencies of certain inherited disorders in the population of Saguenay-Lac Saint Jean can be explained in terms of the variance and the correlation of effective family size (EFS) from one generation to the next. We have shown this effect by using the branching process approach with real demographic data. When variance of EFS is included in the model, despite its profound effect on mutant allele frequency, any mutant introduced in the population never reaches the known carrier frequencies (between 0.035 and 0.05). It is only when the EFS correlation between generations is introduced into the model that we can explain the rise of the mutant alleles. This correlation is described by a c parameter that reflects the dependency of children's EFS on their parents' EFS. The c parameter can be considered to reflect social transmission of demographic behavior. We show that such social transmission dramatically reduces the effective population size. This could explain particular distributions in allele frequencies and unusually high frequency of certain inherited disorders in some human populations.

Figure 1

Schematic representation of the “SLSJ population.” The SLSJ population is defined as all individuals who live or lived in the SLSJ region and all of their ancestors back to the 17th century.

Figure 2

Observed distribution of EFS per married woman in the 19th-century SLSJ population compared with the Poisson and geometric distributions of same mean.