Mongol Genetics: Abstracts and Summaries

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Family Tree DNA: Genetic Testing Service
Genetic testing can reveal your relationships to other families and other ethnic groups. This may be especially useful to Mongols who lived in Communist-era Mongolia where surnames were banned by the government for decades. Some people lost track of their clans and relatives, therefore accidentally marrying them and causing the spread of genetic disease from inbreeding. After getting your Y-DNA and/or mtDNA results, you can join Family Tree DNA's "Mongolian DNA-project".

Many Mongols live in the independent country of Mongolia. Others live in the Inner Mongolia region of north-central China. There are also Mongols in parts of Russia. There are two main divisions of the Mongol people: eastern Mongols (Khalkha Mongols, Inner Mongolians, and Buryats) and Oirats. These are further divided into sub-tribes with names like Kereit, Besud, and Bayad.

The Mongols tend to be excellent representatives of the Mongoloid racial type that was named after them but some western Mongols have hair that's lighter than black, blue or green eyes, and/or pink skin from having intermarried with Caucasoid/Europoid peoples. As in the case of Mongols from Mongolia, there are some Kalmyks with green eyes and/or blond hair, rather than the typical black hair and brown/black eyes of the Mongoloid race.

Haplogroup C3 (M217, P44) is a common Y-DNA (paternal DNA) haplogroup found among the Mongols. It's also common among the Kazakh people and among indigenous Siberian tribes.

Major studies of Mongols

Christine Keyser-Tracqui, Eric Crubézy, Horolma Pamzsav, Tibor Varga, and Bertrand Ludes. "Population origins in Mongolia: genetic structure analysis of ancient and modern DNA." American Journal of Physical Anthropology 131:2 (October 2006): pages 272-281. Abstract:

In the present study, nuclear (autosomal and Y-chromosome short tandem repeats) and mitochondrial (hypervariable region I) ancient DNA data previously obtained from a 2,300-year-old Xiongnu population of the Egyin Gol Valley (south of Lake Baikal in northern Mongolia) (Keyser-Tracqui et al. 2003 Am. J. Hum. Genet. 73:247-260) were compared with data from two contemporary Mongolian populations: one from the same location (Egyin Gol Valley plus a perimeter of less than 100 km around the valley), and one from the whole of Mongolia. The principal objective of this comparative analysis was to assess the likelihood that genetic continuity exists between ancient and present-day Mongolian populations. Since the ancient Xiongnu sample might have been composed of some of the ancestors of the present-day Yakuts, data from a present-day Yakut population, as well as published data from Turkish populations, were also included in the comparative analysis. The main result of our study was the genetic similarity observed among Mongolian samples from different periods and geographic areas. This result supports the hypothesis that the succession over time of different Turkic and Mongolian tribes in the current territory of Mongolia resulted in cultural rather than genetic exchanges. Furthermore, it appears that the Yakuts probably did not find their origin among the Xiongnu tribes, as we previously hypothesized.

Toru Katoh, Batmunkh Munkhbat, Kenichi Tounai, Shuhei Mano, Harue Ando, Ganjuur Oyungerel, Gue-Tae Chae, Huun Han, Guan-Jun Jia, Katsushi Tokunaga, Namid Munkhtuvshin, Gen Tamiya, and Hidetoshi Inoko. "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis." Gene 346 (February 14, 2005): pages 63-70.
      The Y-DNA haplogroups of the Khalkh, Uriankhai, and Zakhchin peoples of Mongolia have affinities with each other as well as peoples of Siberia. By contrast, the Khoton people have Y-DNA more like Central Asians than their fellow Mongolians. In a sample of 40 Khoton men from Uvs Province in western Mongolia, 82.5% of them were found to belong to R-M17, a subclade of R1a called R1a1. Four Khotons belong to C3c, two to J, and one to O3.

Yali Xue, Tatiana Zerjal, Weidong Bao, Suling Zhu, Qunfang Shu, Jiujin Xu, Ruofu Du, Songbin Fu, Pu Li, Matthew E. Hurles, Huanming Yang, and Chris Tyler-Smith. "Male demography in East Asia: a north-south contrast in human population expansion times." Genetics 172:4 (April 2006): pages 2431-2439. First published electronically on February 19, 2006.
      988 men from 27 populations from China, Mongolia, Korea, and Japan were genetically tested based on their Y chromosomes. The 65 "Outer Mongolian" samples lived at the time in a location in south-central Mongolia. The 45 "Inner Mongolian" samples lived in a place in northeastern China, east and north of the Mongolian border. Table 1 on page 2434, titled "Haplogroup frequencies in East Asian populations", summarized that the Inner Mongolian men carried the following Y-DNA haplogroups:
2 belonged to Y*(xA, CE, JR)
17 to C3*(xC3c)
4 to C3c
2 to K*
6 to N3a
1 to O2*
3 to O3*(xO3a-O3e)
2 to O3/-cd*
3 to O3*(xOEe1)
5 to O3e1*(xO3e1a)
As for the haplogroups of the Outer Mongolian men:
2 had Y*(xA, CE, JR)
22 had C3*(xC3c)
13 had C3c
1 had D
2 had J
1 had K*
2 had N2
1 had N3*(xN3a)
4 had N3a
1 had O2*
2 had O3*(xO3a-O3e)
1 had O3/-cd*
1 had O3*(xOEe1)
3 had O3e1*(xO3e1a)
3 had P*(xR1a)
6 had R1a

Yong-Gang Yao, Qing-Peng Kong, Cheng-Ye Wang, Chun-Ling Zhu, and Ya-Ping Zhang. "Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China." Molecular Biology and Evolution 21:12 (December 2004): pages 2265-2280. First published online on August 18, 2004. An excerpt from the Abstract:

"Although our samples were from the same geographic location, a decreasing tendency of the western Eurasian-specific haplogroup frequency was observed, with the highest frequency present in Uygur (42.6%) and Uzbek (41.4%), followed by Kazak (30.2%), Mongolian (14.3%), and Hui (6.7%). No western Eurasian type was found in Han Chinese samples from the same place."

Connie J. Kolman, Nyamkhishig Sambuughin, and Eldredge Bermingham. "Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders." Genetics 142:4 (April 1996): pages 1321-1334.
      Table 2 on page 1332 says that Mongolians in their sample have this distribution of mtDNA haplogroups: A is found among 4.8%, B in 9.7%, C in 14%, D in 20%, other haplogroup(s) in 52%. Abstract:

"High levels of mitochondrial DNA (mtDNA) diversity were determined for Mongolian populations, represented by the Mongol-speaking Khalkha and Dariganga. Although 103 samples were collected across Mongolia, low levels of genetic substructuring were detected, reflecting the nomadic lifestyle and relatively recent ethnic differentiation of Mongolian populations. mtDNA control region I sequence and seven additional mtDNA polymorphisms were assayed to allow extensive comparison with previous human population studies. Based on a comparative analysis, we propose that indigenous populations in east Central Asia represent the closest genetic link between Old and New World populations. Utilizing restriction/deletion polymorphisms, Mongolian populations were found to carry all four New World founding haplogroups as defined by WALLACE and coworkers. The ubiquitous presence of the four New World haplogroups in the Americas but narrow distribution across Asia weakens support for GREENBERG and coworkers' theory of New World colonization via three independent migrations. The statistical and geographic scarcity of New World haplogroups in Asia makes it improbable that the same four haplotypes would be drawn from one geographic region three independent times. Instead, it is likely that founder effects manifest throughout Asia and the Americas are responsible for differences in mtDNA haplotype frequencies observed in these regions."

Excerpts from the body of the article:

"[...] Archaeological and anthropological data reveal that modern Mongolians are the descendants of ancient nomads whose remains have been found throughout the territories of Mongolia dating to at least the end of the Neolithic period (TUMEN 1992). [...] To investigate mtDNA diversity within Mongolia and identify possible New World founding populations, we studied two Mongolian indigenous populations: the Khalkha and the Dariganga, representing 80 and 1.5% of the Mongolian populace, respectively. The Khalkha are the largest cultural group in Mongolia and number - 1.6 million individuals (1989 population census). They are distributed throughout the territory of Mongolia and, like all Mongol-speakers, speak a language assigned to the Mongolian branch of the Altaic linguistic family (BADAMKHATAN 1987) [...] Lack of group B haplotypes would appear to eliminate Siberians as possible New World founders despite their geographic proximity to the Americas. [...] The fact remains, however, that A, C and D haplotype frequencies are elevated in many Siberian populations relative to other Asian groups (Figure 5) suggesting an historical relation between Siberians and New World indigenous groups. SZATHMARY (1994) confirmed the close genetic relationship between circumarctic populations in a UPGMA analysis of 15 blood group and allozyme markers that revealed that Siberian, New World Eskimo and Athapaskan (subset of Na-Dene) populations clustered with each other and not with other Asian or Amerind groups. Thus, Siberians and other circumarctic populations may share a similar genetic origin or their close genetic relationship may reflect long-term genetic exchange. [...] All four New World haplogroups have been detected in Mongolian, central Chinese and Tibetan populations that delineate the only region in Asia where all four haplogroups exist and no population lacking any one of the haplogroups occurs. Thus, the narrow strip of east Central Asia that extends from Mongolia to the Pacific coast may have served as the starting point for the human migration that led to colonization of the New World."

Miroslava V. Derenko, Boris Abramovich Malyarchuk, Tomasz Grzybowski, Galina Denisova, Irina Dambueva, Maria Perkova, Choduraa Dorzhu, Faina Luzina, Hong Kyu Lee, Tomas Vanecek, Richard Villems, and Ilia Zakharov. "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations." American Journal of Human Genetics 81:5 (November 2007): pages 1025-1041. First published online on October 1, 2007.
      Tsendsuren Tsedev's samples from 47 Mongols from Ulaanbataar were included in this mtDNA study and were found to carry these mtDNA haplogroups (among others), according to Table 2: 13% belonged to A4, 11% B4, 8.5% C4, 11% D4, 8.5% G2a, 2.1% K, 4.3% M8a2, 6.4% U4. 110 Kalmyks also participated.

Xuwei Hou, Xianpeng Zhang, Xin Li, Ting Huang, Wenhui Li, Hailong Zhang, He Huang, and Youfeng Wen. "Genomic insights into the genetic structure and population history of Mongolians in Liaoning Province." Frontiers in Genetics 13 (October 12, 2022): article no. 947758.
      Supplementary Table 11A lists Y-DNA and mtDNA assignments for 38 Mongolian individuals from the city of Fuxin whose ancestors lived in this region for at least three generations. Their Y-DNA haplogroups include C2b1a3a1a~, D1a1a1a1a2a~, N1a2b1b1, O2a1c1a1a1a1a1b1a, and Q1a1a1a, among others, and their mtDNA haplogroups include A8a1, A12, B4i, C7b, D4b1b1, D4j1a1, D5a2a, F2b, G3b, M8a2b, M10a1a1b, R9b1a2a, R9c1a, and Z3a1a, among others. The Conclusion states "We found that Fuxin Mongolians had a close genetic relationship with the Han people, northern Mongolians, other Mongolic speakers, and Tungusic speakers in East Asia."

Major studies of Kalmyks

I. Nasidze, D. Quinque, I. Dupanloup, R. Cordaux, L. Kokshunova, and Mark Stoneking. "Genetic evidence for the Mongolian ancestry of Kalmyks." American Journal of Physical Anthropology 128:4 (December 2005): pages 846-854. (mirror) Abstract:

"The Kalmyks are an ethnic group along the lower Volga River in Russia who are thought to have migrated there from Mongolia about 300 years ago. To investigate their origins, we studied mtDNA and Y-chromosome variation in 99 Kalmyks. Both mtDNA HV1 sequences and Y-chromosome SNP haplogroups indicate a close relationship of Kalmyks with Mongolians. In addition, genetic diversity for both mtDNA and the Y chromosome are comparable in Kalmyks, Mongolians, and other Central Asian groups, indicating that the Kalmyk migration was not associated with a substantial bottleneck. The so-called 'Genghis Khan' Y-chromosome short tandem repeat (STR) haplotype was found in high frequency (31.3%) among Kalmyks, further supporting a strong genetic connection between Kalmyks and Mongolians. Genetic analyses of even recent, relatively well-documented migrations such as of the Kalmyks can therefore lead to new insights concerning such migrations."

Siiri Rootsi, Natalie M. Myres, Alice A. Lin, Mari Järve, Roy J. King, Ildus A. Kutuev, Vicente M. Cabrera, Elza K. Khusnutdinova, Kärt Varendi, Hovhannes Sahakyan, Doron M. Behar, Rita Khusainova, Oleg Balanovsky, Elena Balanovska, Pavao Rudan, Levon Yepiskoposyan, Ardeshir Bahmanimehr, Shirin Farjadian, Alena Kushniarevich, Rene J. Herrera, Viola Grugni, Vincenza Battaglia, Carmela Nici, Francesca Crobu, Sena Karachanak, Baharak Hooshiar Kashani, Massoud Houshmand, Mohammad H. Sanati, Draga Toncheva, Antonella Lisa, Ornella Semino, Jacques Chiaroni, Julie Di Cristofaro, Richard Villems, Toomas Kivisild, and Peter A. Underhill. "Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus." European Journal of Human Genetics 20 (2012): pages 1275-1282. First published online on May 16, 2012.
      Kalmyk and Mongolian samples were obtained specifically for this study. 2 of the 80 Kalmyk males tested (2.5%) carried G haplogroups, whereas none of the 76 males from Mongolia belonged to G.

Bayazit Yunusbayev, Mait Metspalu, Ene Metspalu, Albert Valeev, Sergei Litvinov, Ruslan Valiev, Vita Akhmetova, Elena Balanovska, Oleg Balanovsky, and Shahlo Turdikulova. "The Genetic Legacy of the Expansion of Turkic-Speaking Nomads across Eurasia." PLoS Genetics 11:4 (April 21, 2015): e1005068.
      14 Kalmyk individuals had their DNA newly collected by this team and included in their dataset. The authors note that these Kalmyks "demonstrate high IBD [identical-by-descent] sharing with the tested Turkic peoples" and explain this by the fact that "the Mongol-speaking Kalmyks migrated into North Caucasus from Dzhungaria (the northwestern province of China at the Mongolian border) only in the 17th century" while the Turkic peoples share various amounts of ancestry from Southern Siberia and Mongolia.

Natalia Balinova, Helen Post, Alena Kushniarevich, Rodrigo Flores, Monika Karmin, Hovhannes Sahakyan, Maere Reidla, Ene Metspalu, Sergey Litvinov, Murat Dzhaubermezov, Vita Akhmetova, Rita Khusainova, Phillip Endicott, Elza Khusnutdinova, Keemya Orlova, Elza Bakaeva, Irina Khomyakova, Nailya Spitsina, Rena Zinchenko, Richard Villems, and Siiri Rootsi. "Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia." European Journal of Human Genetics (2019). Published online on April 11, 2019. Excerpts from the Abstract:

"[...] all the Oirat-speaking populations studied here, including Kalmyks, share, as a dominant paternal lineage, Y-chromosomal haplogroup C3c1-M77, which is also present in several geographically distant native Siberian populations. We identify a subset of this clade, C3c1b-F6379, specifically enriched in Kalmyks as well as in Oirat-speaking clans in Inner Asia. [...]"

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