Genetic data concerning the problem of differentiation of Northern Mongoloids, American Indians and Caucasoids in the northern territory of Eurasia

Basing on the frequencies of 28 alleles of 12 polymorphic loci of blood groups, serum proteins and red cell enzymes the matrix of genetic distances between 11 populations of Europe, Asia and America was calculated. This matrix and the dendrogram based on it permitted to suggest that the region of South Siberia and the neighbouring regions of Central Asia was the place, where the paleolithic populations were divided into the ancestors of the Northern Mongoloids, Caucasoids and American Indians. The published data concerning the human mtDNA polymorphisms support the hypothesis of the author.     

To the problem of differentiation of north Mongoloids,Caucasoids, and Amerinds on the territory of Eurasia (genetic data)

The matrix of genetic distances of 11 human populations of Europe, Asia, and America was calculated using data on frequencies of 28 alleles of 12 loci of proteins, enzymes, and blood groups. This matrix and constructed on their basis dendrogram permit one to suggest that the place of division of paleolitic population on ancestors of North Mongoloids, Caucasoids, and Amerinds was in South Siberia and possibly in neighbouring regions of Central Asia. Published data on polymorphism of mtDNA in the human populations of Eurasia and America were analysed. These data support the author's hypothesis.     

Comparative study of the upper molar occlusal table morphology among seven human populations

Three-dimensional morphology of the occlusal table of the upper first molars was compared in seven racial populations. Materials were moiré contourograms collected by ourselves over 5 years. Intercuspal distances and cuspal heights were comparatively studied in this analysis. When the populations were arranged in the order of these sizes, their arrangements based on intercuspal distances and cuspal heights were quite different from each other. When intercuspal distances were scaled by protocone-paracone distance, the distances connecting distal cusps were significantly smaller in Mongoloids (Japanese and Eskimo) than in Caucasoids (Dutch and Asiatic Indian), which suggests a reduction tendency of distal cusps in Mongoloids. This tendency was intermediate in Negroids and Australoid. Principal coordinate analysis was carried out on the basis of a similarity matrix including both intercuspal distances and cuspal heights. The result suggested that the three-dimensional shape of the occlusal table was distinguishable in four representative racial populations.     

Phylogeny of Finnish-Ugric populations

Genetic distances of 18 Finnish-Ugric and other populations of Europe, Asia and America by 28 alleles of 12 loci of proteins, enzymes and blood groups were calculated. The data of matrix of genetic distances and dendrogramme constructed by paired clusterisation method suggested that there was the relationship of Finnish-Ugric populations and some Caucasoids and North Mongoloid populations. These data give new approaches to the problem of Finnish-Ugric phylogenesis.     

Genetic variation of five blood group polymorphisms in ten populations of Assam,India

Six Mongoloid and four Caucasoid populations of Assam, India, were examined for A₁A₂BO, Rhesus, Duffy and Diego blood groups. The distribution of their phenotypes and allele frequencies are presented. In the perspective of the ethnographic background, the results have been discussed in terms of genetic variability among these populations and probable reasons for its existence. The major groups, namely Caucasoids and Mongoloids, appear to form two separate groups in terms of these blood groups, though evidence is there to suggest intermixture.     

Structure and Genetic Relationship Among Brazilian Naturalized and Imported Goat Breeds

Fourteen goat populations were studied regarding their genetic relationship and structure. Parameters of genetic diversity (HT, HS and GST) and F statistic (FIS, FIT and FST) were estimated. Undefined breed populations presented high homogeneity, as did imported breed populations. Naturalized breed populations showed high differentiation. The genetic distances separating these 14 goat populations were calculated from gene frequency data for eight blood genetic markers (esterase D, phosphoglucomutase 1, carbonic anhydrase II, peptidase B, amylase, haemoglobin, transferrin, and protein X). Working with the genetic distance matrix of Nei corrected for small samples (DA), we constructed a dendrogram using the unweighted pair group method with arithmetic mean. DA values ranged from 0.0027 to 0.1518. The dendrogram divided the populations into two groups, one consisting of three populations of naturalized breeds, and another including the other populations (imported breeds, undefined breeds and some other naturalized breeds).     

Karyotype structure and polymorphism peculiarities of Chironomus nuditarsis Keyl, 1961 (Diptera,Chironomidae) from natural populations of North Caucasus

The study presents data on the karyotype characteristics and features of chromosomal polymorphism of Chironomus nuditarsis Keyl, 1961 (Diptera, Chironomidae) from seven natural populations of Caucasus (Northwest, Central and East Caucasus). We found 16 banding sequences in the Caucasian populations. We observed inversion polymorphism almost in all chromosome arms except for arms C and E. The genetic distances between all the studied populations of Ch. nuditarsis were calculated using Nei criteria (1972). In spite of relative geographic proximity, the genetic distances between populations of the Caucasus are quite big, and they do not form a single cluster of Caucasian populations. The population of the Northwest Caucasus goes to European cluster; the populations of Central and East Caucasus form their own separate clusters. The principal component analysis (PCA) shows the similar picture. We suggest that such a clear separation of Caucasian populations in distinct clusters is a result of differences of collection sites in terms of geography and climate (complex diverse terrain and microclimate conditions). Four of the Caucasian populations do not follow Hardy-Weinberg expectation. In two populations, there being a marked deficiency of heterozygotes in arms B, F and G. In two other populations, there being a marked excess of heterozygotes in arms B and G. One can suggest that observed pictures could be a reflection of multi-directional selection of heterozygotes in different populations. The populations of Ch. nuditarsis from different parts of the Caucasus possibly diverged from each other at the level of subspecies. All the obtained data are indicative of the complex genetic structure of Caucasian populations of Ch. nuditarsis and total complexity of microevolution processes occurring in the Caucasus region.     

STR polymorphism in populations of indigenous Daghestan ethnic groups

Genomic diversity of 21 STR loci has been studied in six ethnic populations of Daghestan (the Caucasus), namely, Avars, Dargins, Kubachians, Lezgins, and Nogais, and the results have been compared with these data for European, African, and East Asian ethnic groups. Daghestan is unique in its ethnic diversity, which is the greatest in the Caucasus: 26 out of approximately 50 autochthonous ethnic groups of the Caucasus live there. The genetic origin of this wide ethnic diversity of Daghestan and the Caucasus as a whole is still obscure. The genetic heterogeneity of Daghestan populations has been found to be lower than that of most other populations in the world. This is explained by a prolonged isolation and gene drift in their demographic history. Generalized genetic distances between ethnic groups calculated for the whole set of loci studied allow differentiating Asian populations from African ones, with European populations occupying intermediate positions. All Daghestan ethnic populations form a distinct common group together with some European populations (Finnish, Polish, and French). Nogais are genetically close to Southeast Asian populations. The genetic closeness and the apparently equal genetic diversity of Daghestan and European populations suggest that the ethnic differentiation of the ancestral populations of Daghestan and European ethnic groups occurred in the earliest populations of modern humans.     

VNTR-polymorphism of the PAH, e-NOS genes and deletion of the CCR5 gene in populations in the northern Caucasus

VNTR allelic polymorphism at the phenylalanine hydroxilase (PAH) and endothelial constitutive nitric oxide synthase (eNOS) genes and the prevalence of the CCR5 chemokine receptor gene 32-bp deletion were examined in four indigenous populations of Northern Caucasus, Adygs, Kumyks, Karachais, and Nogais (Kuban and Karanogais). Population-specific features of the allele and genotype frequency distribution patterns of the polymorphisms examined were described. The data obtained were compared to those obtained from literature. The results of the study confirmed that the frequency and occurrence of the PAH polymorphic alleles exhibit substantial interpopulation differences. In the populations of Northern Caucasus, the eNOS minisatellite polymorphism alleles and genotypes frequency distribution patterns were close to those described earlier for populations of the Volga-Ural region (VUR), and also for the Australian Caucasoids, Japanese, and Turks. In the populations examined, the mean frequency of the CCR5 gene deletion was 0.055, which was somewhat lower than in the populations of VUR (0.07) and Europe (0.081), and practically identical to that in Asian populations (0.050). For each population observed and expected heterozygosities at each locus were calculated. In general, the gene pool of Northern Caucasian populations showed substantial differentiation at the loci examined: the GST value was 0.0274. The data for individual loci showed that the greater contribution to the interpopulation diversity was made by the differences in the PAH VNTR allele frequencies (GST = 0.04), while the differences at the eNOS and CCR5 loci were small (GST = 0.0025 and GST = 0.0039, respectively).     

Genetic diversity of local geese of varying productivity and feather color in Kars

The local geese in the transition region between the Caucasus Mountains and Anatolia have economically significant differences in productivity and are identified by four feather colors, white, black, piebald, and yellow. This study was undertaken to determine the genetic structure, evolutionary relationships, and genetic diversity among these birds. DNA samples were obtained from 100 animals, and 50 random primers were screened. Genetic relationships were determined by random amplified polymorphic DNA polymorphisms obtained from a total of 48 loci, showing 40 bands (83.33%) that were polymorphic among all the populations investigated. A dendrogram constructed for this study revealed a close relationship between the white and the black birds. Additionally, the piebald birds showed close similarity to white and black geese, and the yellow birds displayed a clear distance from the other three populations.     

Phenetic analysis in paleoanthropology: phenogeography of peoples of the world

Phenetic diversity of peoples of the world in a system of nonmetric, discrete variable traits has been studied. Sixty-two populations from North, Central, and Southeast Asia, Eastern and Western Europe, America, East Africa, Australia and Melanesia have been examined. The estimates of phenetic diversity within regions (F(st)) and the distances of the regions from the global means (d) proved to be comparable to the corresponding estimates inferred from genetic data. This means that differentiation of populations in discrete variable traits is related to the history of formation of their gene pools. A classification tree of the world peoples constructed using bootstrap implemented in the PHYLIP program package (Felsenstein, 1993) showed that the Australo--Melanesian populations were close to the East African ones but separated from those of the Eurasian region. The results of phylogenetic analysis of the reconstructed phene pools of the regional ancestral populations support the assumptions on the early colonization of Australia and Melanesia and on the later time of divergence of the ancestors of modern Caucasoids and North Asian Mongoloids.     

Population study in Assam: ABO blood groups, haemoglobin E and G-6-PD deficiency

An attempt has been made to give a comprehensive picture of occurrence of ABO blood groups, haemoglobin E and G-6-PD deficiency among certain representative populations of the two major racial groups--Mongoloids and Caucasoids--of Assam, India. The qualitative pattern of distribution of ABO gene frequencies shows a clear demarcation between these two major groups. The same is true in respect of HbE gene, too. The Mongoloids present high frequencies of this gene, while among the Caucasoids its frequency is comparatively much lower. With regard to G-6-PD deficiency the distinction between the two groups is not so clear cut, yet some Mongoloid populations show relatively higher incidence of the trait in comparison to that in the Caucasoid populations.     

Genetic relationships between 14 native Spanish breeds of goat

The genetic distances separating 14 Spanish goat breeds are calculated from gene frequency data of 14 genetic blood markers (GSH, Ke, Hb, Dia, Ct, MDH, CA, X, NP, Alp, Am, Cp, Tf and Al). Working from the matrix of Nei's genetic distances we drew a dendrogram demonstrating a great genetic similarity among populations from Negra Serrana, Zamorana, Guadarrama, Retinta, Blanca Andaluza, Berciana and Pirenaica on one hand; and Canaria, Murciana, Blanca Celtibérica, Verata, Palmera, Malague?a and Granadina on the other. We discuss the similarities and differences within our classification using gene frequency data of the blood genetic markers studied, and classifications based chiefly on morphological and production data.     

STR Polymorphism in Indigenous Daghestan Populations

Genomic diversity of 21 STR loci has been studied in six ethnic populations of Daghestan (the Caucasus), namely, Avars, Dargins, Kubachians, Lezgins, Kumiks, and Nogais, and the results have been compared with these data for European, African, and East Asian ethnic groups. Daghestan is unique in its ethnic diversity, which is the greatest in the Caucasus: 26 out of approximately 50 autochthonous ethnic groups of the Caucasus live there. The genetic origin of this wide ethnic diversity of Daghestan and the Caucasus as a whole is still obscure. The genetic heterogeneity of Daghestan populations has been found to be lower than that of most other populations in the world. This is explained by a prolonged isolation and gene drift in their demographic history. Generalized genetic distances between ethnic groups calculated for the whole set of loci studied allow differentiating Asian populations from African ones, with European populations occupying intermediate positions. All Daghestan ethnic populations form a distinct common group together with some European populations (Finnish, Polish, and French). Nogais are genetically close to Southeast Asian populations. The genetic closeness and the apparently equal genetic diversity of Daghestan and European populations suggest that the ethnic differentiation of the ancestral populations of Daghestan and European ethnic groups occurred in the earliest populations of modern humans.     

Genetics and population history of Caucasus populations

We describe aspects of genetic diversity in several ethnic populations of the Caucasus Mountains of Daghestan using mitochondrial DNA sequences and a sample of 100 polymorphic Alu insertion loci. The mitochondrial DNA (mtDNA) sequences are like those of Europe. Principal coordinates and nearest neighbor statistics show that there is little detectable structure in the distances among populations computed from mtDNA. The Alu frequencies of the Caucasus populations suggest that they have undergone more genetic drift than most other groups since the dispersal of modern humans. Genetic differences among these populations are not large; instead, they are of the same order as distances among populations of Europe. We compare two methods of inference about the demography of ancient colonizing populations from Africa, one based on conventional FST statistics and one based on mean Alu insertion frequencies. The two approaches agree reasonably well if we assume that there was demographic growth in Africa before the diaspora of ancestors of contemporary regional human groups outside Africa.     

Polymorphism of Human Thermoreceptor Genes <Emphasis Type="Italic">TRPV1</Emphasis> and <Emphasis Type="Italic">TRPA1</Emphasis> in Populations of the Altai-Sayan Region and the Far East

Genotyping of TRPV1 and TRPA1 genes encoding thermoreceptors in the populations of the Altai-Sayan region and the Far East was conducted. The sample consisted of 15 populations comprising 1482 individuals. The analysis of TRPV1 rs222747 demonstrated that the frequency of M315I was closest to East Asian populations only in Nanais and Koryaks (56 and 64%, respectively). Siberian Tatars, Yakuts, and Evenks were closest to European populations. All populations of the Altai-Sayan region reported an intermediate position between the Caucasoids and the Eastern Mongoloids on the basis of the frequency of M315I. No deviations from the Hardy–Weinberg distribution were observed. The observed heterozygosity exceeded the expected one in eight populations. The analysis of TRPA1 rs13268757 revealed that Chukchi, Yukaghir, Koryak, Tuvinian, Southern Altaian, and Telengit populations were closest to the East Asian populations on the basis of the frequency of R3C substitution (3–7%). At the same time, populations of Siberian Tatars, Nanais, Evenks, Yakuts, Shorians, Khakases, and Kazakhs were intermediate between the Caucasoids (18–23%) and the Mongoloids from East Asia (3–7%) on the basis of the frequency of this polymorphism. A deviation from the Hardy–Weinberg distribution was detected only in the Yukaghir population. The observed heterozygosity was higher than the expected one in nine populations. A trans-association of TRPA1 and TRPV1 gene polymorphisms was carried out in 14 populations via regression analysis. A negative correlation of–0.545 was determined, the number of degrees of freedom (df) was 13, and the P-value was 0.048. The data obtained indicate that the analyzed polymorphisms are correlated, which confirms an earlier conclusion of the TRPA1-dependent inhibition of TRPV1 function. The results may evidence in the co-evolution of analyzed genes.     

Phenetic Analysis in Paleoanthropology: Phenogeography of Peoples of the World

Phenetic diversity of peoples of the world in a system of nonmetric, discrete variable traits has been studied. Sixty-two populations from North, Central, and Southeast Asia, Eastern and Western Europe, America, East Africa, Australia, and Melanesia have been examined. The estimates of phenetic diversity within regions (F_st) and the distances of the regions from the global means (d) proved to be comparable to the corresponding estimates inferred from genetic data. This means that differentiation of populations in discrete variable traits is related to the history of formation of their gene pools. A classification tree of the world peoples constructed using bootstrap implemented in the PHYLIP program package (Felsenstein, 1993) showed that the Australo-Melanesian populations were close to the East African ones but separated from those of the Eurasian region. The results of phylogenetic analysis of the reconstructed phene pools of the regional ancestral populations support the assumptions on the early colonization of Australia and Melanesia and on the later time of divergence of the ancestors of modern Caucasoids and North Asian Mongoloids.     

Geographic and genetic boundaries of brown bear (Ursus arctos) population in the Caucasus

The taxonomic status of brown bears in the Caucasus remains unclear. Several morphs or subspecies have been identified from the morphological (craniological) data, but the status of each of these subspecies has never been verified by molecular genetic methods. We analysed mitochondrial DNA sequences (control region) to reveal phylogenetic relationships and infer divergence time between brown bear subpopulations in the Caucasus. We estimated migration and gene flow from both mitochondrial DNA and microsatellite allele frequencies, and identified possible barriers to gene flow among the subpopulations. Our suggestion is that all Caucasian bears belong to the nominal subspecies of Ursus arctos. Our results revealed two genetically and geographically distinct maternal haplogroups: one from the Lesser Caucasus and the other one from the Greater Caucasus. The genetic divergence between these haplogroups dates as far back as the beginning of human colonization of the Caucasus. Our analysis of the least‐cost distances between the subpopulations suggests humans as a major barrier to gene flow. The low genetic differentiation inferred from microsatellite allele frequencies indicates that gene flow between the two populations in the Caucasus is maintained through the movements of male brown bears. The Likhi Ridge that connects the Greater and Lesser Caucasus mountains is the most likely corridor for this migration.     

Genetic archaeologic perspective on the origin of Yakuts

Published data on two cases of linkage disequilibrium in Yakuts are analyzed. These are the disequilibria between loci HLA-A and HLA-B and between the mutation of gene SCA1 responsible for type 1 spinocerebellar ataxia and its flanking microsatellites D6S274 and D6S89. Both cases are regarded as consequences of the founder effect. The genetic archeological approach has been used to calculate the historical period when the mutant SCA1 gene and the HLA-A1\B17 haplotype spread in the population. It has been found that this was approximately 60-70 generations (1500-1750 years) ago in both cases. The time of the segregation of haplotype HLA-A1\B17 has also been calculated for some other populations. Caucasoids have proved to be the oldest carriers of this gene, which agrees with the well-known notion that HLA-A1 originated in Indo-Europeans. The general distribution of HLA genes in Yakuts is similar to that in east-central Asian Mongoloids; therefore, it is concluded that that Yakuts are east-central Asian Mongoloids by origin, except for the founder that had haplotype A1\B17. Historically, the time of the appearance of this haplotype coincided with the period when Saks conquered east-central Asia; therefore, it is hypothesized that the aforementioned founder was a Sak.     

Genetic relationships between 14 native Spanish breeds of goat

Summary. The genetic distances separating 14 Spanish goat breeds are calculated from gene frequency data of 14 genetic blood markers (GSH, Ke, Hb, Dia, Ct, MDH, CA, X, NP, Alp, Am, Cp, Tf and Al).
Working from the matrix of Nei's genetic distances we drew a dendrogram demonstrating a great genetic similarity among populations from Negra Serrana, Zamorana, Guadarrama, Retinta, Blanca Andaluza, Berciana and Pirenaica on one hand; and Canaria, Murciana, Blanca Celtibérica, Verata, Palmera, Malaguena and Granadina on the other.
We discuss the similarities and differences within our classification using gene frequency data of the blood genetic markers studied, and classifications based chiefly on morphological and production data.