INTRODUCTION Work of team headed by Yu.G. Rychkov [1] laid the foundation of intensive research of gene pools of the indigenous peoples of South Siberia. Since then, a huge amount of data was accumulated characterizing the population genetic structure of the South Siberian peoples according to different genetic systems: autosomal DNA markers [2, 3], mitochondrial DNA markers [4, 5], Y-chromosome markers [6-9], X chromosome markers [10], quasigenetic markers - surnames [11, 12]. Formed biobanks and databases of Siberian population gene frequencies are increasingly in demand by the international scientific community [13] to solve the fundamental [14] and applied [15] problems. The result of these studies was understanding of necessity to study the small-numbered nations (in this article, we will use the term "sub-ethnos" to refer to them), joined under territorial exoethnonyms. Exoethnonyms such as "Altaians", "Khakass", and "Shors" are names of the indigenous population of various geographical areas - the Altai-Sayan highlands, Khakass-Minusinsk hollow, Mountain Shoria. At the same time the modern Altaians population includes four sub-ethnic groups having the status of indigenous peoples - Kumandins, Telengits, Tubalars, Chelkans and fifth - the title for the Republic of Altai - the Altai-Kizhi. Khakass include four sub-ethnic groups - Kachins, Koybals, Kyzyls, and Sagays. Shors have two sub-ethnic groups - mountain taiga and Abakanian. It is obvious that in the recent past namely the small-numbered peoples reflected features of population of Southern Siberia, so the analysis of gene pools of small- numbered peoples may open a new page in its ethnic history and microevolution of its populations. Khakass is the indigenous population of the Republic of Khakassia (hereinafter - RK). Emergence of the ethnic term "Khakass" and validity of its use as a self- designation of South Siberian Turks of the Khakass- Minusinsk hollow causes debates in historical and ethnographic environment. According to some researchers, this term is endogenous, as it existed previously as the name of one of the oldest ethnic groups - ethnonym "Khakass" was mentioned in the Chinese written sources of the VI - XII centuries [16]. According to another view, it is exoethnonyms, and its implementation as a self-designation of ethnic genetics of RK is artificial. [17] Please cite this article in press as: Lavryashina M.B., Ul'yanova M.V., Balaganskaya O.A., Balanovska E.V. Genetic structure of the Khakass sub- ethnic groups from autosomal DNA markers and surnames. Science Evolution, 2016, vol. 1, no. 2, pp. 78-84. doi: 10.21603/2500-1418-2016-1-2-78-84. Copyright © 2016, KemSU. This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http:// creativecommons.org/licenses/by/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for any purpose, even commercially, provided the original work is properly cited and states its license. This article is published with open access at http:// science-evolution.ru/ The process of formation of Khakass ethnos included several stages. "Kyrgyz" stage is connected with the existence of the Kyrgyz State (VI-XIII centuries). The Yenisei Kyrgyz, one of the ancient cultural peoples of Central Asia, were among the ancestors of the modern Khakass and Kyrgyz people, and dispersed among many stock-raising peoples of the Sayano-Altai. "Hongoray" stage [18] covers formation of Khakass composed of several principalities (XIV-XVIII centuries). "Russian" stage began after accession of Khakass to Russia (XVIII - XXI centuries). "Russian" stage is characterized by pronounced consolidation of indigenous population of the Khakass-Minusinsk hollow under official ethnonym "Khakass" within the province, district, county, autonomous region and, finally, the Republic of Khakassia. Division of Khakass into modern Kachins, Sagays, Koybals, and Kyzyls was accepted at the beginning of the XVIII century and was based on names of the largest Khakass seoks: khaas, sagay, khoybals, khyzyl [19]. However, formation of these sub-ethnic groups has its roots in the period preceding appearance of Russian people on the Yenisei River [20] Kachins, which included seoks (genus) such as yzyr, pyuryut, sohs, khaskha, kyrgyz, and others, dominated politically and economically, and thus became the center of the consolidation processes of Khakass in the XVIII-XIX centuries. Kyzyls formed on the basis of Turkic-speaking population of valleys of White and Black Iyus, and Chulym. Formation of Koybals proceeded on the basis of the Turkic-speaking tribes and their assimilation of Samoyed and Ket-speaking population of the right bank of the Yenisei River. Koybals originally formed under the influence of Kachins, but since 1858, after the integration of their territories into the Sagayskaya Duma, their convergence with Sagays and Beltyrs intensified. By the end of the XIX century Beltyrs become to move closer to Sagays who expanded their territory at the expense of assimilation of population living on the left tributaries of the river Abakan, and in the ХХ century the ethnicon "sagays" spread to Beltyrs. Descendants of Birusins and Shors were also involved in the formation of the sagay group [20]. Official population censuses indicate the number of Khakass in Russia: as of 2002 - 75.6 thousand people, as of 2010 - 72.9 thousand people, including in the Republic of Khakassia - 63.6. All-Russian population censuses do not considered Khakass belonging to individual sub-ethnic groups. According to the calculated data [21], at the beginning of the XXI century, Sagay sub- ethnic group dominates numerically, but four sub-ethnic group still persist and have areas of compact dwelling: Kachins and Kyzyls - Ordzhonikidze and Shirinsky districts of RK, Koybals - Beysky district of RK, Sagays - Askizsky and Tashtypsky districts of RK (Fig. 1). Currently, Khakass people are characterized by significant inter-ethnic mixing, as a result of marriages between members of individual sub-ethnic groups, as well as the common tendency to the loss of self-designations - Kachins, Kyzyls, Koybals, and Sagays. According to the physical anthropology data, Khakass are generally classified as South Siberian Mongoloids, but their sub-ethnic groups are heterogeneous: The South Siberian variant is predominating among Kachins and Koybals, and is noticeably weakened among Sagays and Kyzyls [22]. With regard to ethnic genetics, a problem about genetic reality of the existence of Khakass sub- ethnic groups is still open. Previously we have investigated the gene pools of Kachins, Koybals, and Sagays according to data on Y-chromosome polymorphism - one of the most informative genetic systems in the arsenal of ethnic genetics and ethnic genetics [9, 23]. The results obtained indicate a significant genetic subdivision of Khakass sub-ethnic groups (FST=30.3%): the Khakass gene pool is a leader among the peoples of South Siberia in the degree of heterogeneity. Kopyevo Shira Abakan Askiz Beya Tashtyp Legend: Sub-ethnic group Boundaries of the Republic of Khakassia Sagays Boundaries of municipal units Koybals Cities District centers Khakass sub-ethnic groups Kachins Kyzyls Fig. 1. The main areas of compact dwelling of Khakass sub-ethnic groups in the Republic of Khakassia. According to the physical anthropology data, Khakass are generally classified as South Siberian Mongoloids, but their sub-ethnic groups are heterogeneous: The South Siberian variant is predominating among Kachins and Koybals, and is noticeably weakened among Sagays and Kyzyls [22]. With regard to ethnic genetics, a problem about genetic reality of the existence of Khakass sub-ethnic groups is still open. Previously we have investigated the gene pools of Kachins, Koybals, and Sagays according to data on Y-chromosome polymorphism - one of the most informative genetic systems in the arsenal of modern population and ethnic genetics [9, 23]. The results obtained indicate a significant genetic subdivision of Khakass sub-ethnic groups (FST=30.3%): the Khakass gene pool is a leader among the peoples of South Siberia in the degree of heterogeneity. The aim of this work was to continue research in this sense - to assess genetic reality of existence of Khakass sub-ethnic groups according to autosomal DNA markers and the surname pool. MATERIALS AND METHODS Material for the study was collected in the course of joint expeditions of the Kemerovo State University (Kemerovo, Russia) and the Medical Genetic Research Center (Moscow, Russia). The indigenous population of Khakassia was surveyed in places of its compact dwelling in five districts of the Republic of Khakassia - Askizsky, Beysky, Ordzhonikidze, Tashtypsky, and Shirinsky. Level of consolidation and subdivision of Khakass was assessed with the use of two types of markers (Table 1). Table 1. Number of the studied samples of indigenous population of the Republic of Khakassia Khakass sub-ethnic groups, territories SURNAMES DNA markers Number of surnames Number of surname bearers Kachins Shirinsky, Ordzhonikidze districts 226 2370 126 Koybals Beysky district 45 400 52 Kyzyls Ordzhonikidze district 62 274 15 Sagays Askizsky, Tashtypsky districts 439 6649 156 TOTAL FOR KHAKASS 704 9693 349 According to quasigenetic markers (surnames), the total sample included nearly 10 thousand people according to the household population registration books of rural municipalities (2000-2010). We analyzed the frequency and variety of surnames. Frequencies of common surnames were used to calculate isonymy index (Ri) [24], characterizing similarity (kinship) of groups. The second type - genetic markers as such - included autosomal gene loci: CCR2*rs1799864 (single nucleotide polymorphism); CCR5*rs333 (insertion-deletion polymorphism); ACE1*rs4646994, PLAT*rs4646972, no A25*rs, PV92*rs3138523, ApoA1*rs3138522, no B65*rs, no F13B*rs (Alu- polymorphism). A single panel of 349 DNA samples of Khakass (Table 1) was studied. Genomic DNA isolated from venous blood by phenol-chloroform extraction was used as a material. Amplification results were evaluated using agarose gel electrophoresis. DNA detection was carried out using gels coloring with ethidium bromide followed by DNA visualization under UV light. In the course of CCR2*rs1799864 genotyping, a PCR product was subjected to pre- restriction. Genetic distances (d [25]) between sub- ethnic groups of Khakass were calculated on the basis of allele frequencies (DJgenetic software [Balanovsky et al., 2008]). Measure of their discrepancy was assessed using the indicator GST [25]. RESULTS AND THEIR DISCUSSION We found clear genetic differences between Khakass sub-ethnic groups. Allele frequencies of autosomal DNA markers were significantly different (Table 2). Alu-gene insertion in PLAT gene was registered among Kachins more frequently (0.521), than among Koybals (0.451, χ2 =7.77, p < 0.01), Kyzyls (0.346, χ2 =7.97, p < 0.01) and Sagays (0.513, χ2 =5.82, p < 0.05) The Koybal population is characterized by a spread Alu-insertion in СDН13 - PV92 (0.656) gene. Its frequency in the Kyzyls (0.577, χ2 =4.97, p