Effects of mating patterns on genealogical trees: Assessment of the high carrier rate of Familial Mediterranean Fever in rural Israeli districts

We investigate the spread from ancestors to descendants, under a model of sexual reproduction, of hereditary elements distinguishing individuals from their fellow human beings. These hereditary elements, termed labels, are either symbolic, implying a socio-cultural or ethnic self-determined category, or biological, i.e. a DNA sequence (for example founder mutations). The impact of various modes of preferential (assortative) mating on the dissemination of a known ancestral label was studied for both kinds of labels, the symbolic and the biological. For the socio-cultural based labeling, both mathematical modeling and simulation studies were carried out, and disclosed a marked delay in the spread of the labels in future generations, compared to the case where mating was random. The transmission of biological labels (founder mutations) from an ancestor to descendants under various modes and degrees of assortative mating was investigated by simulations and supplemented by an in-depth analysis of allele frequencies of Familial Mediterranean Fever (FMF) in an Israeli Muslim Arab village. The high carrier frequency of FMF in this village was satisfactorily explained solely by the presence of a founder effect and a pronounced high factor of selective mating, causing segregation and consanguinity among its inhabitants. Contribution of further evolutionary mechanisms such as heterozygote advantage, drift, differential reproductive success or selection pressure was not essential to explain these results.