Ukrainian Genetics: Abstracts and Summaries

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Ukrainians speak a form of East Slavic and trace their roots to ancient Kievan Rus' that existed a thousand years ago. The Ukrainian alphabet is a form of Cyrillic.

The Ukrainian people's Y-DNA haplogroups include E, F, J, N3, P, and R1a1.

Ukrainian people have been found to descend to a large extent from those Indo-Europeans who originated in West Asia (that is, the northern Middle East) then settled in Ukraine and created the "kurgan" culture. Other ethnic groups with high proportions of the Indo-European R1a1 type include Poles, Russians, Slovenes, and some groups that live on the Indian sub-continent. Ukrainians also descend from older European populations (represented by haplogroup P) and from non-Indo-European Middle Easterners (represented by haplogroups J and E).

Major studies of Ukrainians

V. N. Kharkov, V. A. Stepanov, S. A. Borinskaya, Zh. M. Kozhekbaeva, V. A. Gusar, E. Ya. Grechanina, V. P. Puzyrev, E. K. Khusnutdinova, and N. K. Yankovsky. "Gene Pool Structure of Eastern Ukrainians as Inferred from the Y-Chromosome Haplogroups." Russian Journal of Genetics 40:3 (March 2004), pp. 326-331. Abstract:

"Y chromosomes from representative sample of Eastern Ukrainians (94 individuals) were analyzed for composition and frequencies of haplogroups, defined by 11 biallelic loci located in non-recombining part of the chromosome (SRY1532, YAP, 92R7, DYF155S2, 12f2, Tat, M9, M17, M25,M89, andM56). In the Ukrainian gene pool, six haplogroups were revealed: E, F (including G and I), J, N3, P, and R1a1. These haplogroups were earlier detected in a study of Y-chromosome diversity on the territory of Europe as a whole. The major haplogroup in the Ukrainian gene pool, haplogroup R1a1 (earlier designated HG3), accounted for about 44% of all Y chromosomes in the sample examined. This haplogroup is thought to mark the migration patterns of the early Indo-Europeans and is associated with the distribution of the Kurgan archaeological culture. The second major haplogroup is haplogroup F (21.3%), which is a combination of the lineages differing by the time of appearance. Haplogroup P found with the frequency of 9.6%, represents the genetic contribution of the population originating from the ancient autochthonous population of Europe. Haplogroups J and E (11.7 and 4.2%, respectively) mark the migration patterns of the Middle-Eastern agriculturists during the Neolithic. The presence of the N3 lineage (9.6%) is likely explained by a contribution of the assimilated Finno-Ugric tribes. The data on the composition and frequencies of Y-chromosome haplogroups in the sample studied substantially supplement the existing picture of the male lineage distribution in the Eastern Slav population."

Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery, Anna Olivieri, Maria Pala, Natalie M. Myres, Roy J. King, Siiri Rootsi, Damir Marjanovic, Dragan Primorac, Rifat Hadziselimovic, Stojko Vidovic, Katia Drobnic, Naser Durmishi, Antonio Torroni, Augusta Silvana Santachiara-Benerecetti, Peter A. Underhill, and Ornella Semino. "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe." European Journal of Human Genetics 17 (2009): pages 820-830. First published online on December 24, 2008. (mirror) 92 Ukrainian males participated in this study. Their Y-DNA haplogroups were found in these frequencies:
E1b1b1a2 among 7.6%
E1b1b1c among 1.1%
G2a* among 3.3%
H1a among 1.1%
I1* among 1.1%
I1b* among 1.1%
J2a1b* among 1.1%
J2a1b1 among 1.1%
J2a1k among 1.1%
J2b* among 1.1%
J2b2 among 2.2%
N1 among 6.5%
Q among 1.1%
R1a1* among 50% - their most prevalent haplogroup
R1b1b2 among 2.2%
T among 1.1%

Krzysztof Rebala, Alexei I. Mikulich, Iosif S. Tsybovsky, Daniela Siváková, Zuzana Dzupinková, Aneta Szczerkowska-Dobosz, and Zofia Szczerkowska. "Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin." Journal of Human Genetics 52 (2007), pp. 406-414. Abstract excerpts:

"A set of 18 Y-chromosomal microsatellite loci was analysed in 568 males from Poland, Slovakia and three regions of Belarus. The results were compared to data available for 2,937 Y chromosome samples from 20 other Slavic populations. [...] Two genetically distant groups of Slavic populations were revealed: one encompassing all Western-Slavic, Eastern-Slavic, and two Southern-Slavic populations, and one encompassing all remaining Southern Slavs. [...] Homogeneity of northern Slavic paternal lineages in Europe was shown to stretch from the Alps to the upper Volga and involve ethnicities speaking completely different branches of Slavic languages. The central position of the population of Ukraine in the network of insignificant AMOVA comparisons, and the lack of traces of significant contribution of ancient tribes inhabiting present-day Poland to the gene pool of Eastern and Southern Slavs, support hypothesis placing the earliest known homeland of Slavs in the middle Dnieper basin."

Boris Abramovich Malyarchuk, Tomasz Grzybowski, Miroslava V. Derenko, Maria A. Perkova, T. Vanecek, J. Lazur, P. Gomolcak, and I. Tsybovsky. "Mitochondrial DNA phylogeny in Eastern and Western Slavs." Molecular Biology and Evolution 25:8 (2008): 1651-1658. Abstract:

"To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in Eastern Europe and estimate their evolutionary age, a total of 73 samples representing mitochondrial haplogroups U4, HV*, and R1 were selected for complete mitochondrial genome sequencing from a collection of about 2000 control-region sequences sampled in Eastern (Russians, Belorussians, Ukrainians) and Western (Poles, Czechs and Slovaks) Slavs. On the basis of whole-genome resolution, we fully characterized a number of haplogroups (HV3, HV4, U4a1, U4a2, U4a3, U4b, U4c, U4d, and R1a) that were previously described only partially. Our findings demonstrate that haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times (~ 12,000-19,000 YBP) in Eastern Europe. In addition, an ancient connection between the Caucasus/Europe and India has been revealed by analysis of haplogroup R1 diversity, with a split between the Indian and Caucasus/European R1a lineages occurring about 16,500 years ago. Meanwhile, some mtDNA subgroups detected in Slavs (such as U4a2a, U4a2*, HV3a, R1a1) are definitely younger being dated between 6,400-8,200 YBP. However, robust age estimations appear to be problematic due to the high ratios of non-synonymous to synonymous substitutions found in young mtDNA subclusters."

M. Mielnik-Sikorska, P. Daca, Marcin Woźniak, Boris Abramovich Malyarchuk, Miroslava V. Derenko, K. Skonieczna, and Tomasz Grzybowski. "The history of Slavs in the light of Y chromosome and mtDNA variability." A paper presented at the DNA in Forensics 2012 conference in Innsbruck, Austria between September 6-8, 2012. 154 modern Ukrainian males contributed Y-DNA samples for this study and were compared with data gathered and published earlier from both Slavic and non-Slavic peoples. The abstract specifies that "Y chromosome diversity was analyzed using a panel of 11 SNP polymorphisms (including M458 - so called 'Western Slavic marker') and 17 Y-STRs" on the newly-gathered Ukrainian Y-DNA samples. About 2700 Slavic people (Russians, Ukrainians, Czechs, Slovaks, and Poles) contributed mtDNA control-region sequences and compared with published data related to the haplogroup H5. While the founder H5 clade originated about 12,000-15,000 years ago and is mostly found in southern Europe, the subclusters H5a1a, H5a1f, H5e1a, H5a2, and H5u were found to be primarily found among people living in central and eastern Europe and to have originated about 2000-5000 years ago when the Corded Ware culture flourished and expanded, and the scientists believe the Slavs of today descend from members of that culture.

Boris Abramovich Malyarchuk, M. V. Derenko, G. A. Denisova, M. R. Nassiri, and E. I. Rogaev. "Mitochondrial DNA Polymorphism in Populations of the Caspian Region and Southeastern Europe." Russian Journal of Genetics 38:4 (2002): pages 434-438. Abstract:

"Mitochondrial DNA (mtDNA) restriction polymorphism was examined in Turkmens, Eastern Iranians, and Ukrainians. The gene pools of all populations studied were characterized by the presence of European mtDNA lineages. Mongoloid component observed in Turkmen and Iranian populations with the frequencies of about 20% was represented by groups C, D, and E/G in Turkmens, and by M*, D, A, and B in Iranians. The relative positions of the populations studied, of populations from the Caucasus, Western Iran, and Russian populations from the Krasnodar krai and Belgorod oblast in the space of principal components revealed a geographically specific pattern of the population clustering. The data on mtDNA polymorphism indicated pronounced differentiation of Eastern and Western Iranians. The latter were characterized by a mtDNA group composition similar to that in Eastern Slavs. The historical role of the Caspian populations in the formation of the population of Southeastern Europe is discussed."

Fulvio Cruciani, Roberta La Fratta, Beniamino Trombetta, Piero Santolamazza, Daniele Sellitto, Eliane Beraud Colomb, Jean-Michel Dugoujon, Federica Crivellaro, Tamara Benincasa, Roberto Pascone, Pedro Moral, Elizabeth Watson, Bela Melegh, Guido Barbujani, Silvia Fuselli, Giuseppe Vona, Boris Zagradisnik, Guenter Assum, Radim Brdicka, Andrey I. Kozlov, Georgi D. Efremov, Alfredo Coppa, Andrea Novelletto, and Rosaria Scozzari. "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12." Molecular Biology and Evolution 24(6) (June 2007): pages 1300-1311. First published online on March 10, 2007. This large study of populations from Europe, Asia, and Africa confirmed that all signs point to the Y-DNA haplogroup E-M78 (E1b1b1a1) having come from northeastern Africa originally. In relation to the Ukrainian people, we learn from "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed" that they included samples from 11 Ukrainian males and of these 9.09% (that is, one of them) had E-M78 and 9.09% had E-V13.


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