The dagestan gene pool: The genetic structure of the nine largest ethnic groups: Analysis based on data on the AB0 and Rhesus blood groups

Detailed analysis of the population structure of Dagestan ethnic groups based on data on the AB0 and Rhesus blood groups has been carried out. A total of 32101 representatives of the nine largest ethnic groups of Dagestan (from 682 auls in 46 raions) have been examined. This allows a comprehensive genetic landscape of the Dagestan population to be drawn. Comparison of the ethnic groups studied with other Caucasian ethnic groups makes it possible to determine the position of the Dagestan gene pool in the total structure of the Caucasian gene pool.     

Gene pool of Daghestan ethnic groups: Polymorphism of classical gene markers in the Darghin ethnic group

The work is part of a study of the gene pool for Daghestan ethnic groups. In total, 38 alleles and eight genotypes were studied at 14 loci (AB0, Rhesus, P, Lewis, Kell, PH, GC, C′3, TF, 6-PGD, GLO1, ESD, ACP, and PBM1) of immunogenetic and biochemical polymorphic gene systems. A high frequency of allele d of the Rhesus system was observed in all populations examined (0.399–0.474). Among the rare haplotypes of the Rhesus system, we observed CDE in the Degva population, Cde in the Sergokala and Degva populations, and cdE in the Sergokala and Vanashimakhi populations. The typical Caucasian ACP1 ^c allele of the ACP1 locus, which is rather uncommon, was observed at a relatively high frequency in three (Segokala, Vanashimakhi, and Gubden) of the four local populations under study. In the Lewis system, a high frequency of the Le(a+b+) phenotype, which is characteristic of early childhood, was detected in the adult populations of Sergokala and Degva. The rare PGM ₁ ^V allele of the phosphoglucomutase 1 system (PGM1) was additionally observed in the Sergokala population. Statistical analysis identified 19 cases where the observed phenotype frequencies significantly differed from the frequencies expected from the Hardy-Weinberg equilibrium.     

Structure of the gene pool of ethnic groups from the Altai-Sayan region from data on mitochondrial polymorphism]

Using the data on mitochondrial DNA (mtDNA) polymorphism, genetic structures of the four Turkic-speaking ethnic groups of Altai-Sayan highlands, Southern Altaians (Altai-Kizhi), Khakassians, Shorians, and Sojots, were described. Mitochondrial gene pools of the populations examined were characterized by different ratios between Mongoloid (M*, C, D, E, G, A, B, and F) and Caucasoid (H, U, T, J, and K) mtDNA lineages. All the populations studied had a strongly pronounced Mongoloid component, the frequency of which was 88.2% in Sojots, 75.9% in Khakassians, 67.4% in Altaians, and 64.3% in Shorians. Maximum frequency of the Caucasoid component (35.7%) was observed in Shorians. Phylogenetic and statistical analyses of the mtDNA group frequency distribution patterns in the gene pools of the ethnic populations of Altai-Sayan highlands and the adjacent territories showed that the populations of the region fell into three groups. The first group included Khakassians, Tuvinians and Altaians, the second group consisted of Sojots, Buryats, and Mongols, while the third group was composed of Uigurs, Kazakhs, and Kyrgyzes. The isolated position of Shorians among the populations examined can be explained by their different anthropological composition and their presumptive relatedness to Finno-Ugric populations of Siberia.     

Gene pool of Dagestan ethnic groups: polymorphism of classical gene markers in the Darghin ethnic group

The work is part of a study of the gene pool for Daghestan ethnic groups. In total, 38 alleles and eight genotypes were studied at 14 loci (AB0, Rhesus, P, Lewis, Kell, HP, GC, C'3, TF, 6-PGD, GLO1, ESD, ACP, and PGM1) of immunogenetic and biochemical polymorphic gene systems. A high frequency of allele d of the Rhesus system was observed in all populations examined (0.399-0.474). Among the rare haplotypes of the Rhesus system, we observed CDE in the Degva population, Cde in the Sergokala and Degva populations, and cdE in the Sergokala and Vanashimakhi populations. The typical Caucasian ACP1c allele of the ACP1 locus, which is rather uncommon, was observed at a relatively high frequency in three (Segokala, Vanashimakhi, and Gubden) of the four local populations under study. In the Lewis system, a high frequency of the Le(a+b+) phenotype, which is characteristic of early childhood, was detected in the adult populations of Sergokala and Degva. The rare PGM1v allele of the phosphoglucomutase 1 system (PGM 1) was additionally observed in the Sergokala population. Statistical analysis identified 19 cases where the observed phenotype frequencies significantly differed from the frequencies expected from the Hardy--Weinberg equilibrium.     

Structure and diversity of the mitochondrial gene pool of the aboriginal population of Tuva and Buriatia from restriction polymorphism data

The populations of Tuvinians (N = 36) and Buryats (N = 105) were characterized by using the data on mitochondrial DNA (mtDNA) polymorphism. The gene pools of both ethnic groups possessed the mtDNA types belonging to the four main haplogroups, A, B, C, and D, found only in the indigenous populations of Asia and America. The total frequencies of the A, B, C, and D haplogroups in Tuvinians and Buryats were 72.3% and 52.4%, respectively. These values, along with the frequency for Altai populations (57.2%), were highest in the Asian populations studied, indicating that the populations Southern and Eastern Siberia can be considered as ancestral relatives to the ethnic groups of the New World. Analysis of the mtDNA region V polymorphism showed the presence of 9-bp deletion and 4-bp insertion in both populations with frequencies respectively of 13.9 and 5.56% in Tuvinians and 4.8 and 1.9% in Buryats. The frequency of the +AvaII/8249 variant was 11.1% in Tuvinians and 3.81% in Buryats. Analysis of the association between the region V deletion-insertion polymorphism and certain restriction haplogroups pointed to repeated and independent emergence of the 4-bp insertion in Siberia.     

Gene pool of ethnic groups of the caucasus: results of integrated study of the Y chromosome and mitochondrial DNA and genome-wide data

Genetic diversity has been analyzed in 22 ethnic groups of the Caucasus on the basis of data on Y-chromosome and mitochondrial DNA (mtDNA) markers, as well as genome-wide data on autosomal single-nucleotide polymorphisms (SNPs). It has been found that the West Asian component is prevailing in all ethnic groups studied except for Nogays. This Near Eastern ancestral component has proved to be characteristic of Caucasian populations and almost entirely absent in their northern neighbors inhabiting the Eastern European Plain. Turkic-speaking populations, except Nogays, did not exhibit an increased proportion of Eastern Eurasian mtDNA or Y-chromosome haplogroups compared to some Abkhaz-Adyghe populations (Adygs and Kabardians). Genome-wide SNP analysis has also shown substantial differences of Nogays from all other Caucasian populations studied. However, the characteristic difference of Nogays from other populations of the Caucasus seems somewhat ambiguous in terms of the R1a1a-M17(M198) and R1b1b1-M73 haplogroups of the Y chromosome. The state of these haplogroups in Turkic-speaking populations of the Caucasus requires further study.     

Polymorphism of the erythrocyte band 3 gene (EPB3) in ethnic groups of Costa Rica

Band 3 (AE1) is one of the most abundant proteins in the membrane of the human erythrocyte. This protein works as an anionic CI - and HCO3- exchanger and it also functions as an anchor for several proteins of the erythrocyte's cytoesqueleton. Several mutations have been described and many polymorphic variants have been associated to hereditary spherocytosis. The identification of a genetic marker at position 5' of the AEl gene could be associated to several molecular defects of the erythrocyte. This genetic marker is a restriction fragment length polymorphism (RFLP) produced by restriction enzime Pst I. For this polymorphism a total of 216 individuals belonging to seven different populations were analyzed: one from the Central Valley, two African descendants (Lim6n and Guanacaste) and four Amerindians (Bribri, Cabecar, Maleku and Guaymi). The most frequent allele in the Amerindian population was no 1. No significant differences were found with respect to the Hardy-Weinberg equilibrium in six of the populations, although the Guaymi group does present significative differences     

The genetic relationship among Iranian ethnic groups: an anthropological view based on HLA class II gene polymorphism

Highly polymorphic human leukocyte antigen (HLA) genes are considered as useful markers by molecular anthropologists to determine genetic relationship among populations. This review summarizes the results of molecular analyses of HLA class II gene polymorphism in 816 DNA samples from 11 Iranian ethnic groups. The genetic relationship of Iranians to Asians and Europeans has also been reported here. The results of this study revealed a close genetic relationship among Iranian subpopulations which were well separated from other Asian and European populations, however, a genetic similarity was observed among Iranians, Macedonians, Greeks, and Italians.     

The Aymara of Western Bolivia. IV. Gene frequencies for eight blood groups and 19 protein and erythrocyte enzyme systems.

A total of 315 individuals, mainly of Aymara origin, from western Bolivia were examined for genetic variation at eight red cell antigen and 19 serum protein and red cell enzyme loci. The gene frequencies for polymorphic loci and the discovery of several rare variants are discussed in terms of previous work among the Aymara and the closely related Quechua. The effect of inclusion of related individuals in the sample on gene frequency, variance of gene frequency and genetic distance, is discussed.     

The gene pool of the Belgorod oblast population: I. Differentiation of all district populations based on anthroponymic data

The gene pool of the entire population of all the 21 raions (districts) of the Belgorod oblast (region) has been studied using anthroponymic data. Considerable geographic variations of the number of surnames and the degree of population subdivision (0.00003 < f _r ^* < 0.00125) in the 21 districts have been demonstrated. Districts with low population subdivision levels are mainly located in the central and southwestern raions of the Belgorod oblast, contain an urbanized area (city), and border on Ukraine (they are characterized by a considerable Ukrainian immigration). Urbanization significantly affects the population structure of the Belgorod oblast. In urbanized districts, rural populations lack the relationships between the population size, number of surnames, and population subdivision level (f _r).     

The gene pool of the Belgorod region population: I. Differentiation of all district populations based on anthroponymic data

The gene pool of the entire population of all the 21 raions (districts) of the Belgorod oblast (region) has been studied using anthroponymic data. Considerable geographic variations of the number of surnames and the degree of population subdivision (0.00003 < f(r)* < 0.00125) in the 21 districts have been demonstrated. Districts with low population subdivision levels are mainly located in the central and southwestern raions of the Belgorod oblast, contain an urbanized area (city), and border on Ukraine (they are characterized by a considerable Ukrainian immigration). Urbanization significantly affects the population structure of the Belgorod oblast. In urbanized districts, rural populations lack the relationships between the population size, number of surnames, and population subdivision level (f(r)).     

AB0 blood groups and the type of leprosy in an Indian population

In 931 leprosy patients from Bankura, West Bengal, India, the relationship between the AB0 blood group and the immunological type of leprosy (lepromatous vs. nonlepromatous) was examined. Among the 472 lepromatous patients, there was a slight excess of blood group A (and also AB and B) as compared with the nonlepromatous group. This excess was not significant statistically in our material. However, combination of the data with those published by Beiguelman (1964) from Brazil and Yankah (1965) from Ghana renders a significantly higher incidence of group A (and probably B and AB) in lepromatous patients.The examinations were supported by WHO (Grant No. G 3/181/15), by the Deutsche Forschungsgemeinschaft and by the Indian Statistical Institute.     

Genetic diversity of X-chromosome in populations of aboriginal Siberian ethnic groups: linkage disequilibrium structure and haplotype philogeography of ZFX locus

The structure of gene pool of the Siberian aboriginal population has been described based on the data on polymorphism of ZFX gene located on X-chromosome. In ten populations under study 49 haplotypes have been determined, three of which are presented with high frequency. Comparing the obtained results with the available data from HapMap project unique "African" haplotypes were revealed, which occurred in Yoruba population with the frequency of 3-7% and were not found in other populations. A coefficient of genetic differentiation of the Siberian ethnic groups under study amounted to 0.0486. Correlation analysis involving Mantel test did not reveal any significant correlations between a matrix of genetic distances and the matrices of geographic, linguistic and anthropological differences, where a maximum coefficient was obtained at the comparison with the anthropological matrix. Phylogenetic analysis proved strong isolation of African population from the other investigated ethnic groups. The Siberian populations were subdivided into two separate clusters: the first one included Yakuts, Buryats and Kets, while the second cluster included Altaians, Tuvinians and Khanty. A principal component analysis enabled to combine the investigated populations in three groups, which clearly differed by a degree of manifestation of Caucasoid and Mongoloid components. The first group included Europe inhabitants and one of Khanty populations, the second one--populations of South Siberia and China inhabitants. Mongoloid populations of East Siberia, the Japanese and Kets were combined in the third group. The results of barrier analysis revealed similar structure of genetic differentiation in the Siberian population. Linkage disequilibrium structure was obtained for six ethnic groups of Siberia. A unified linkage block by ten SNP of ZFX gene was found in five of the presented ethnic groups (excluding Ket population).     

Seasonal effects on fetal selection related to AB0 blood groups of mother and child.

An association of AB0 blood groups and month of birth was examined in two groups, students and newborns in Tokyo. Among 4919 students born mainly in the 1960s, an apparent seasonal variation was shown in births of blood group B students. Among 3592 newborns at an obstetric clinic in the 1980s seasonal variation was also observed in all four blood groups. The ratio of 0 group to A group newborns (0/A ratio) from 0 mothers was lower than that from A mothers among the 0 and A pairs contrary to the expected effects of 0-A incompatibility. The 0/A ratio was apparently different by season and the 0/A ratio from 0 mothers was significantly lower than that from A mothers among those born during August-January. It is assumed that an association of birth season with AB0 blood group may be caused by some seasonally and secularly changing environmental "infertility factors" such as infectious microorganism which may have some common components with a particular blood group substance respectively and induce a loss of embryos selectively at a particular season.     

Genetic diversity of the Khakass gene pool: Subethnic differentiation and the structure of Y-chromosome haplogroups

The structure of Khakass gene pool has been investigated: Y-chromosome haplogroup compositions and frequencies were described in seven population samples of two basic subethnic groups, Sagai and Kachins, from three geographically separated regions of the Khakass Republic. Eight haplogroups were detected in the Khakass gene pool: C3, E, N*, N1b, N1c, R1a1a, and R1b1b1. The haplogroup spectra and the genetic diversity by haplogroups and YSTR haplotypes differed significantly between Sagai and Kachins. Kachins had a low level of gene diversity, whereas the diversity of Sagai was similar to that of other South-Siberian ethnic groups. Sagai samples from the Askizskii district were very similar to each other, and so were two Kachin samples from the Shirinskii district, while Sagai samples from the Tashtypskii district differed considerably from each other. The contribution of intergroup differences among ethnic groups was high, indicating significant genetic differentiation among native populations in Khakassia. The Khakass gene pool was strongly differentiated both by haplogroup frequencies and by YSTR haplotypes within the N1b haplogroup. The frequencies of YSTR haplotypes within the chromosome Y haplogroups N1b, N1c, and R1a1 were determined and their molecular phylogeny was investigated. Factor and cluster analysis, as well as AMOVA, suggest that the Khakass gene pool is structured by territory and subethnic groups.     

The Population Gene Pool of Yakutia: Cartographic Analysis Based on the Polymorphism of Biochemical Markers and the AB0 System

The gene pool of the indigenous population of Sakha Republic (Yakutia) has been studied within the borders of this republic coinciding with the main area of Yakuts, which was formed by the end of the 19th century and have remained stable until the present time. Maps of the geographic variation of the integral characteristics of the Yakut gene pool, including the principal components, parameters of genetic diversity, and genetic distances from the “average” Yakut population are presented. It has been demonstrated that ethnographers' reports on intense internal assimilation in modern Yakutia agree with genetic data. The stratification of the Yakut gene pool reflected in the maps of two principal components corresponds to the observed total (H_T) and interpopulation (F_ST) gene diversities.     

The population gene pool of Yakutia: cartographic analysis based on the polymorphism of immune and biochemical markers

The gene pool of the indigenous population of Sakha Republic (Yakutia) has been studied within the borders of this republic coinciding with the main area of Yakuts, which was formed by the end of the 19th century and have remained stable until the present time. Maps of the geographic variation of the integrated characteristics of the Yakut gene pool, including the principal components, parameters of genetic diversity, and genetic distances from the "average" Yakut population are presented. It has been demonstrated that ethnographers' reports on intense internal assimilation in modem Yakutia agree with genetic data. The stratification of the Yakut gene pool reflected in the maps of two principal components corresponds to the observed general (H(T)) and interpopulation (FST) gene diversities.     

Niger-Congo speaking populations and the formation of the Brazilian gene pool: mtDNA and Y-chromosome data

We analyzed sequence variation in the mitochondrial DNA (mtDNA) hypervariable segment I (HVS-I) from 201 Black individuals from two Brazilian cities (Rio de Janeiro and Porto Alegre), and compared these data with published information from 21 African populations. A subset of 187 males of the sample was also characterized for 30 Y-chromosome biallelic polymorphisms, and the data were compared with those from 48 African populations. The mtDNA data indicated that respectively 69% and 82% of the matrilineages found in Rio de Janeiro and Porto Alegre originated from West-Central/Southeast Africa. These estimates are in close agreement with historical records which indicated that most of the Brazilian slaves who arrived in Rio de Janeiro were from West-Central Africa. In contrast to mtDNA, Y-chromosome haplogroup analysis did not allow discrimination between places of origin in West or West-Central Africa. Thus, when comparing these two major African regions, there seems to be higher genetic structure with mtDNA than with Y-chromosome data.     

The dagestan gene pool: Analysis of the frequencies of classical genetic markers in Avars

This study is part of long-term research in the gene pool of Dagestan ethnic groups. The phenotype (in percent), gene, and haplotype frequencies in three Avar populations are reported. A total of 37 alleles of 13 loci of immune and biochemical genetic marker systems (ABO, Rhesus, P, Lewis, HP, GC, C′3, TF, 6PGD, GLO1, ESD, ACP, and PGM1) have been studied. Rare haplotypes of the Rhesus system (CDE, Cde and cdE) have been found in the populations studied. In two out of three local populations (Khunzakh and Kharakhi), a typically “Caucasoid” rare gene ACP1 ^c of the AcP1 locus has proved to be relatively frequent (0.030 and 0.023, respectively). The frequencies of the allele variantsP ² , le, and Hp ¹ of loci of the P, Lewis, and HP systems, respectively, have been found to be lower than in other Caucasian ethnic groups and the total northern Eurasian population. The mean allele frequencies for the GC, C′3, TF, 6PGD, GLO1, and ESD systems in the populations studied are comparable wit those for both Caucasian ethnic groups and the total population of the European historical ethnographic province. Statistical analysis of the results has shown 11 cases of significant deviations of the observed phenotype frequencies from the Hardy-Weinberg equilibrium.