The article presents arguments regarding the perspective of studying the population using surnames as a tool of population genetic research. The model of a virtual polyallelic locus linked to the Y chromosome in peoples with patrilineal inheritance and linked to mtDNA in peoples with matrilineal inheritance is presented, which allows analyzing the distribution of surnames by means of population genetics. It is proved that the change of surnames at the time of marriage, false paternity and spelling errors do not affect the overall result of the calculations. Attention is drawn to the selective neutrality of surnames in relation to the natural environment and selectivity to the social environment. Examples of the advantages of surnames as population markers are given: quick obtaining of results, low financial cost of works compared to effectiveness, absence of statistical and ethical problems. The expediency of using surnames for the study of Ukrainian populations is proven by their compliance with the conditions put forward for markers. In conditions that make it impossible to collect actual material in populations and laboratory analysis of biological samples, working with lists of surnames is best suited for undergraduates and graduate students conducting research in anthropogenetics.
Aim. The aim was to analyze the population of Luhansk region and to investigate the possibility of surnames to differentiate populations at the district level. Methods. The general population census database of Luhansk oblast was used. Calculations of indicators of the population structure of the regional and eighteen district populations were carried out according to I. Barrai. Results. The structure of the Luhansk regional population is characterized by the isonymy index І (2.4×10-4), the FST inbreeding coefficient (6.0×10-5), the migration index v (18.7×10-4), the diversity index a (41.7×102), entropy H (14.6) and surname redundancy R (31.0). Indicators of district populations vary widely: I from 3.5×10-4 in the industrial areas of the south of the region to 23.7×10-4 in the north. The FST is in the range 8.7–59.3×10-5, v — 69.3–241.9×10-4, a — 4.3–29.0×102, H — 9.7–13.4, R — 24.1–30.2. Conclusions. The results obtained with the surnames testify to the significant impact of human economic activity on the population structure, which is reflected in isonymy, inbreeding and migration.
Aim. The aim of the study was to characterize the population distribution of psychiatric phenotypes according to anxiety and depression. Methods. The level of anxiety and depression was assessed with the HADS Hospital Anxiety and Depression Scale test. Students in grades 9-11 of secondary schools in Kharkiv, as well as their parents, were tested. We tested 306 persons from 115 families. Results. The frequency of depression among men in the Kharkiv population is 9%, among women 11%, among boys 15%, among girls 22%; the frequency of increased anxiety among men is 14%, among women 22%, among boys 19%, among girls 44%. There is a positive relationship between anxiety and depression in older men and women, expressed by the association coefficient in men rDT =0.45, in women rDT =0.79. The relatives revealed a similarity in psychological types, described by the association index for depression in mother/daughter pairs r = 0.40, mother/son r = 0.03, father/daughter r = 0.20, father/son r = 0.40; for anxiety: mother/daughter r = 0.15, mother/son r = 0.05, father/daughter r = 0.24, father/son r = 0.01. Conclusions. Individuals of the younger generation are more likely to have signs of anxiety and depression than those of their parents' generation. The parent-offspring phenotype relationship is stronger in same-sex couples compared to opposite-sex couples. Keywords: depression, anxiety, population distribution, family analysis.
The diagnostic model to highlight the high-risk groups of nonalcoholic fatty liver disease in patients with type 2 diabetes mellitus by the level of retinol-binding protein-4, high molecular weight adiponectin and body mass index using discriminant analysis was developed.
Aim. Due to the fact that women's reproductive behavior has been changing with the development of civilization, from natural uncontrolled fertility in the early stages of human development to reproductive technologies in our time, the aim of this work was to study the direction and intensity of natural selection index and changes of the quantitative characteristics of reproduction in women residents of Kharkiv in three successive generations. Methods. Material was collected in 1990 and 2017. The obstetric and gynecological history of the inhabitants of Kharkiv was studied. The first generation included 589 women who were born in 1900–1925, 244 women born in the period 1928–1955, made up the second generation, 288 women who were born in 1956–1979, were assigned to third generation. Results. The total selection index is reduced from 0.56 in the first generation to 0.29 and 0.28 in the second and third generations, respectively. Over the eighty-year period, the differential fertility rate has decreased. The percentage of women with pathological pregnancies increased from 4.9 in the first generation, to 22.5 in the second and 18.4 in the third generation. Conclusions. The total selection index in the Kharkiv population into three successive generations has decreased by half: from 0.56 to 0.28, the index of differential mortality has decreased by almost four times. Keywords: reproductive characteristics, Kharkov population, Crow's index, selection, generations.
Aim. To clarify the role of temperament in the formation of the marriage structure of the urbanized population. Methods. The type of temperament was determined using the G. Eysenck personality questionnaire (EPI). Results. 267 couples were examined. The age of men is 35-57 years old, the age of women is 33-55 years old. The entire survey was Kharkov residents - ethnic Ukrainians and Russians. Among the studied marriages, 105 (almost 40%) were endogamous in relation to temperament, 162 (60%) were exogamous. The actual number of endogamous marriages was greater, and exogamous less than the theoretically expected number in panmixia. All endogamous marriages turned out to be positively assortative, the indicator of marital assortativeness for various types of temperament was 17-25%. Conclusions. In endogamous marriages, only the effect of “attraction” was observed. In exogamous marriages, both statistical “attraction” and “repulsion” of temperaments are noted. The effect of "attraction/ repulsion" manifests itself in different ways in reciprocal marriages. Keywords: temperament, population, endogamy.
Purpose of the study: to calculate the irrationality index Ir for the population of the region level, to analyze the regularity of distribution of its values in the territories of Ukraine, which differ in geographical conditions and previous history of population formation. Methods. Using total names, isonymy indices for the entire population of Ukraine, individual regions and oblasts are calculated. Results. The Ir index for the whole population of Ukraine is 2,13×10-4. In some regions of Ukraine it has the following meanings: east – 2,69×10-4, south - 2,23×10-4, center - 3,15×10-4, north - 3,40×10-4, west – 2,40×10-4. The Ir frequency distribution map for regional populations shows a gradient of this index rising from the southeast to the northwest of the country. The minimum Ir value is observed in the Crimea (1,61×10-4), the maximum in the Volyn region (7,14×10-4). Conclusions. The Ukrainian population isonymy index is of the same order of magnitude as in other European countries. The territorially dependent variation of the isonymy index is explained in the peculiarities of the history and landscape of the area. Keywords: population, isonymy, surnames, migration, genetic drift.
The human genetic diversity of the Americas has been affected by several events of gene flow that have continued since the colonial era and the Atlantic slave trade. Moreover, multiple waves of migration followed by local admixture occurred in the last two centuries, the impact of which has been largely unexplored. Here, we compiled a genome-wide dataset of ∼12,000 individuals from twelve American countries and ∼6,000 individuals from worldwide populations and applied haplotype-based methods to investigate how historical movements from outside the New World affected (1) the genetic structure, (2) the admixture profile, (3) the demographic history, and (4) sex-biased gene-flow dynamics of the Americas. We revealed a high degree of complexity underlying the genetic contribution of European and African populations in North and South America, from both geographic and temporal perspectives, identifying previously unreported sources related to Italy, the Middle East, and to specific regions of Africa.
Aim. According to the data characterizing reproductive behavior of women, assess an impact of ethnicity and level of education on the intensity of selection in the urbanized multinational population of Kharkiv city. Methods. Data from obstetric history of 532 post-reproductive age women was studied. Results. For indicators of the number of pregnancies with favorable and unfavorable outcomes, universally valid statistical indicators were calculated. Crow’s indexes were calculated as indicators of the intensity of selection. The total selection index for Ukrainians living in Kharkiv equal 0.26, for Russians it is 0.32, and for the group formed from representatives of rare nationalities this index is 0.75. In a group of women with secondary education total selection index is 0.26, in a group with highest education it is 0.35. Conclusions. Ethnicity and level of education of women affects reproductive behavior and determine number of pregnancies and their outcomes. Selection indexes differ in ethnic groups and in groups with different levels of education. Keywords: reproductive characteristics, Kharkiv population, Crow's index, selection, nationality, education.
The indigenous populations of inner Eurasia, a huge geographic region covering the central Eurasian steppe and the northern Eurasian taiga and tundra, harbor tremendous diversity in their genes, cultures and languages. In this study, we report novel genome-wide data for 763 individuals from Armenia, Georgia, Kazakhstan, Moldova, Mongolia, Russia, Tajikistan, Ukraine, and Uzbekistan. We furthermore report genome-wide data of two Eneolithic individuals (∽5,400 years before present) associated with the Botai culture in northern Kazakhstan. We find that inner Eurasian populations are structured into three distinct admixture clines stretching between various western and eastern Eurasian ancestries. This genetic separation is well mirrored by geography. The ancient Botai genomes suggest yet another layer of admixture in inner Eurasia that involves Mesolithic hunter-gatherers in Europe, the Upper Paleolithic southern Siberians and East Asians. Admixture modeling of ancient and modern populations suggests an overwriting of this ancient structure in the Altai-Sayan region by migrations of western steppe herders, but partial retaining of this ancient North Eurasian-related cline further to the North. Finally, the genetic structure of Caucasus populations highlights a role of the Caucasus Mountains as a barrier to gene flow and suggests a post-Neolithic gene flow into North Caucasus populations from the steppe.
Aim. The purpose of research is to analyse the populations of Transcarpathian region, finding out, as ability of surnames changes to differentiate the populations of area level as compared with regional. Methods. The base of total list of surnames of the population of Transcarpathian region is used. The way of description of genetic structure of the population offered I. Barrai. Material is analysed with use of methodical approaches developed of Е.В. Balanovskaya. Results. Population genetic ratings for area as a whole - index of isonymy (І=6,1×10-4), index of inbreeding (FST=15,2×10-5), migration index (v=12,8×10-4), rate of names diversity (a=16,4×102), index of entropy (H=12,8) and redundancy of surnames (R=36,7), as well as for thirteen areas of Transcarpathian region are designed. Conclusions. Index isonymy, inbreeding and migration in a few times above in the populations of area level, than regional, the rating of diversity in area populations has more low values, than in regional population. Keywords: quasigenetic markers, population, isonymy, inbreeding, migration.
Aim. The purpose of research is to evaluate the level of similarity of children and parents on the type of temperament. Methods. With the aid of personal questionnaire of Н. Aizenka’s (EPI) psychometric testing of teenagers and their parents is performed. The ratings of the association in concord vapours parents / descendants are designed. Results. At the men of first generation the most frequent they are sanguine (31 %) and choleric type of temperament (30 %), at women – melancholic (40 %). At youngster (the men of second generation) all types of temperament meet approximately with identical frequency, girl mostly choleric persons (39 %). Melancholiacs among them phlegmatic persons – 20 %, sanguine persons - 13% account for 28 %. Similarity on temperament - a share of concord pairs - most strong is expressed in vapours mother / son (45 %). Specific gravity of other concord pairs is accounted for: by the mother / daughter and father / 32 % daughter, father / son are 20%. The most strong association is noted in vapours mother / son on phlegmatic temperament (r=0.54), as well as choleric (r=0.26). Conclusions. In the association of temperament at parents and descendants parent effect is revealed. Similarity of temperament at descendants with mother to 1.5 times is stronger, than similarity of temperament at descendants with father. Keywords: temperament, Н. Aizenka’s questionnaire (EPI), concord relatives, factor of the association.
Aim. Reproductive behavior of women has particular importance in the reproduction of the population and depends on cultural characteristics and religious views. Number of birth and medical abortions become artificially regulated; nevertheless selection in human populations does not disappear. Therefore, the aim of this task to study the direction and intensity of indexes of natural selection and the dynamics of the gene pool in the Kharkiv population for two adjacent generations. Methods. The material was collected in 2017. Anonymous questionnaires were conducted for women in postreproductive age. The questionnaire includes questions which reflect a woman's gynecological and obstetrical anamnesis. The number of pregnancies and their outcomes was calculated: medical and spontaneous abortions, ectopic pregnancies, number of stillbirths and live births. Results. In one generation, the total selection index decrease from 0.29 to 0.28, while the differential fertility index is much higher than the differential mortality index. The average number of pregnancies and medical abortions reduced in the younger generation with statistically significant difference. Conclusions. The Kharkov population is characterized by a narrow type of reproduction. The dynamics of Crow's indexes are in line with global trends. From the older generation to the younger the total selection index decreases gradually.Keywords: reproductive characteristics,Kharkov population, Crow's index, selection, generations.
The article describes the principles of teaching the course of anthropogenetics in a classical university, taking into account the needs of various branches of science and practical activity: medicine, pedagogy, psychology, criminology, pharmacology, etc. The main examples of the most frequent mistakes in the planning and organization of anthropogenetic research are given. These examples concern the approaches and methods of genetics in solving scientific and practical problems associated with human heredity. The most outstanding achievements of Kharkov anthropogenetic school as the center of systematic research in the field of human genetics in Ukraine are described. The description of the training course of anthropogenetics, taught at the Biological Faculty of the V.N. Karazin Kharkov National University is given. Keywords: anthropogenetics.
Background: Migration is a very important and powerful factor of population dynamics. It can lead to evident genetic consequences, like allele frequency change, as well to non-direct effects by creating new environment for migrant genes to be realized, and different personality and somatic traits, governed by these genes, to be expressed, accordingly. Aim: The aim of this research was to assess the impact of migration on the level of empathy and aggression among native population and migrants of the Ukrainian megapolis. Subjects and methods: Altogether 444 males and 597 females – permanent residents of Kharkov aged 45–65 years passed a test for the level of aggression by Assinger's questionnaire and for the level of empathy by Mehrabian-Epstein's questionnaire. Results: Place of birth of both subjects and their parents was taken into account. The migration and the “alien” genes appear to increase the level of aggression and reduce the level of empathy. Combined action of these factors resulted in an average level of empathy by 15–16% and aggression by 5–6%. Conclusion: Variation in the level of aggression is much more dependent on the genetic factor (4%) rather than on the environmental (1.8%). The rate of the environmental factor in the empathy variation is 9%, when the genetic − 7%. Keywords: Migration, Ukraine, Aggression, Empathy
Aim. The aim was to compare the frequency spectra of Y chro mosome haplogroups among Ukrainians from different regions, identify atypical populations and determine their characteristics. Methods. A sample of Ukrainians (n = 1141) from 12 regions of Ukraine was investigated. DNA samples were genotyped by the SNP markers of the Y chromosome. The frequencies of Y chromosome haplogroups for the regions were compared using the χ2 and F tests. Results. Differences between regions in the haplogroup frequency distribution were determined, atypical populations were detected, and the features of their Y-chromosome spectrum were studied. Conclusions. Lviv and Rivne samples were the closest to frequencies of Y-chromosome haplogroups averaged for Ukraine. The highest specificity was found in samples from Khmelnitska (R-M198(×M458) high frequency, R-M458 low frequency), Zaporozhska (E-M78 absence) and Chernigov (R-M458 high frequency, R-M198(×M458) low frequency) regions. Keywords: Y-chromosome, haplogroup, Ukrainians, gene pool.
Whole-genome sequencing of individuals from 125 populations provides insight into patterns of genetic diversity, natural selection and human demographic history during the peopling of Eurasia and finds evidence for genetic vestiges of an early expansion of modern humans out of Africa in Papuans. Three international collaborations reporting in this issue of Nature describe 787 high-quality genomes from individuals from geographically diverse populations. David Reich and colleagues analysed whole-genome sequences of 300 individuals from 142 populations. Their findings include an accelerated estimated rate of accumulation of mutations in non-Africans compared to Africans since divergence, and that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans but from the same source as that of other non-Africans. Eske Willerlsev and colleagues obtained whole-genome data for 83 Aboriginal Australians and 25 Papuans from the New Guinea Highlands. They estimate that Aboriginal Australians and Papuans diverged from Eurasian populations 51,000–72,000 years ago, following a single out-of-Africa dispersal. Luca Pagani et al. report on a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations. Their analyses support the model by which all non-African populations derive most of their genetic ancestry from a single recent migration out of Africa, although a Papuan contribution suggests a trace of an earlier human expansion. High-coverage whole-genome sequence studies have so far focused on a limited number1 of geographically restricted populations2,3,4,5, or been targeted at specific diseases, such as cancer6. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history7,8,9 and refuelled the debate on the mutation rate in humans10. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record11, and admixture between AMHs and Neanderthals predating the main Eurasian expansion12, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.
Permanent residents of Kharkiv (637 men and 856 women at the age of 45–65 years) are tested on the level of aggression and empathy. The average aggression level (41.7 points) is higher in migrants (born outside Kharkiv) than in indigenous people (36.3 points); the average empathy level is lower in migrants (3.2 points) than in indigenous people (5.5 points). The average values of the aggression and empathy indices are not associated with ethnicity and degree of miscegenation. The correlation between spouses (r) by these personal features is within 0.20–0.31; the marriage conjugation index (K) is 0.13–0.18. Genotyping of the married couples for the rs2235186 SNP of X-linked monoaminooxidase (MAO-A) gene detected a positive marriage assortativeness: the C × CC and T × TT pairs are developed more frequently than during panmixia; the C × TT and T × CC pairs, less frequently. The T allele is coupled with increased aggression level and decreased empathy level. The phenotypes of heterozygous women indicate the intermediate inheritance of these traits.
The Slavic branch of the Balto-Slavic sub-family of Indo-European languages underwent rapid divergence as a result of the spatial expansion of its speakers from Central-East Europe, in early medieval times. This expansion-mainly to East Europe and the northern Balkans-resulted in the incorporation of genetic components from numerous autochthonous populations into the Slavic gene pools. Here, we characterize genetic variation in all extant ethnic groups speaking Balto-Slavic languages by analyzing mitochondrial DNA (n = 6,876), Y-chromosomes (n = 6,079) and genome-wide SNP profiles (n = 296), within the context of other European populations. We also reassess the phylogeny of Slavic languages within the Balto-Slavic branch of Indo-European. We find that genetic distances among Balto-Slavic populations, based on autosomal and Y-chromosomal loci, show a high correlation (0.9) both with each other and with geography, but a slightly lower correlation (0.7) with mitochondrial DNA and linguistic affiliation. The data suggest that genetic diversity of the present-day Slavs was predominantly shaped in situ, and we detect two different substrata: 'central-east European' for West and East Slavs, and 'south-east European' for South Slavs. A pattern of distribution of segments identical by descent between groups of East-West and South Slavs suggests shared ancestry or a modest gene flow between those two groups, which might derive from the historic spread of Slavic people.