Population Genetics of the Ashkenazim

Ashkenazi Jews represent the largest Jewish community and traditionally trace their origin to the ancient Hebrews who lived in the Holy Land over 3000 years ago. Ashkenazi Jews are among the groups most intensively studied by population geneticists. Here, main genetic findings and their implications to the history of Ashkenazim are presented reflecting in a way major developments in population genetics as a discipline. Altogether, Ashkenazi Jews appear as a relatively homogenous population which has retained its identity despite nearly 2000 years of isolation and is closely related to other Jewish communities tracing their common origin to the Middle East.

Keywords: Ashkenazim; classic genetic markers; DNA polymorphisms; RFLPs; mtDNA; Y-chromosomal DNA

Figure 1. An unrooted neighbour-joining tree depicting relationships among 21 populations, based on DA distances. The distance matrix is calculated using frequencies of haplogroups defined by 10 binary Y chromosome polymorphisms. Reproduced from Nebel et al. (2007).
Figure 2. A median-joining network of haplogroup R1a1 in Ashkenazi Jews showing the relationships of the 14 haplotypes found in Ashkenazi Jews. At the centre of the network is H6, the likely founding haplotype of this haplogroup in Ashkenazim. Those haplotypes marked with an asterisk were observed at low frequency in other Jewish groups and Muslim Palestinians. Circle size is proportional to haplotype frequency. Reproduced from Nebel et al. (2005).
Figure 3. A simplified phylogenetic tree of haplogroup K showing the position of the three dominant Ashkenazi lineages in a global set of complete K sequences. AJ – Ashkenazi Jews; non-AJ – Jews of North African, Caucasian, Near Eastern and Spanish-exile ancestry; Eur – Europeans; WA – non-Jews from Anatolia, the Caucasus, central and southwestern Asia and the Near East and NA – North Africans. Circle size is proportional to haplotype frequency; branch lengths are drawn equal for simplicity; haplotypes observed at less than 1% frequency are not shown. Modified from Behar et al. (2006).
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 Further Reading
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    book Kleiman Y (2004) DNA and Tradition: The Genetic Link to Ancient Hebrews. Jerusalem, NY: Debora Publishing.
    Risch N, Tang H, Katzenstein H and Ekstein J (2003) Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. American Journal of Human Genetics 72: 812–822.
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Faerman, Marina(Jul 2008) Population Genetics of the Ashkenazim. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020818]