The Druze: A Population Genetic Refugium of the Near East

Abstract

BackgroundPhylogenetic mitochondrial DNA haplogroups are highly partitioned across global geographic regions. A unique exception is the X haplogroup, which has a widespread global distribution without major regions of distinct localization.Principal FindingsWe have examined mitochondrial DNA sequence variation together with Y-chromosome-based haplogroup structure among the Druze, a religious minority with a unique socio-demographic history residing in the Near East. We observed a striking overall pattern of heterogeneous parental origins, consistent with Druze oral tradition, together with both a high frequency and a high diversity of the mitochondrial DNA (mtDNA) X haplogroup within a confined regional subpopulation. Furthermore demographic modeling indicated low migration rates with nearby populations.ConclusionsThese findings were enabled through the use of a paternal kindred based sampling approach, and suggest that the Galilee Druze represent a population isolate, and that the combination of a high frequency and diversity of the mtDNA X haplogroup signifies a phylogenetic refugium, providing a sample snapshot of the genetic landscape of the Near East prior to the modern age.

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

“…A recent study proposes a resolution to this contradiction. Examination of mitochondrial DNA sequence variation together with Ychromosome-based haplogroup structure amongst the Druze revealed a striking pattern of heterogeneous parental origin, consistent with the Druze oral tradition [Shlush et al, 2008]. Both the low migration rates with nearby populations and the pattern of Mendelian genetic disease further support the theory of diverse ancestry, and repute the possibility of a founder effect for the Druze as a homogenous population.…”

Population screening in a Druze community: the challenge and the reward

“…Haplogroup analyses indicate particular isolation of the Galilee population. 1 The practices of endogamy and consanguinity, and the prohibition of conversion have preserved isolation of the Druze communities. In studies conducted in Israel during 1990 -1992, 53% of the Druze women interviewed after giving birth were married to a relative, 2 compared with 2.3% of Jewish women.…”

General Method to Unravel Ancient Population Structures through Surnames, Final Validation on Italian Data

“…More generally, surnames collected from historical records and pedigrees have been used to increase the "archaeogenetic" power of anthropological studies (Bedoya et al 2006;Boattini et al 2011;Bowden et al 2008;Darlu et al 2012;Hill et al 2000;Moore et al 2006;Shlush et al 2008;Zei et al 2003), similarly to the investigations addressing the transmission of Mendelian traits and/or complex diseases in isolated populations (Angius et al 2001;Colonna et al 2007;Mocci et al 2009;Traglia et al 2009). Unfortunately, the analysis of historical records and pedigrees is time-demanding and, besides specific research projects, discourages a wider effort to depict the genetic variability of the past.…”