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.     

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.     

Genetic Markers and Psoriasis in Three Ethnic Populations of Dagestan

Analysis of clinical material obtained from the individuals (49 psoriasis patients and 357 individuals without this disease) representing three ethnic populations of Dagestan (Avars, Dargins, and Kumyks) was performed. Polymorphism of the blood group loci AB0, Rhesus (RH), Kell, P, and Lewis, as well as of the protein-encoding loci for haptoglobin (HP), transferrin (TF), the third complement component (C′3), group-specific component (GC), and the enzymes, including glycosylase (GLO1), esterase D (ESD), 6-phosphate dehydrogenase (6PDG), and acid phosphatase (ACP), was studied. It was demonstrated that in the pooled sample of Avars and Kumyks the Lewis system phenotype Le(a-b-) and the phenotype ee of the Rhesus system were statistically significantly more frequent among the psoriasis patients (P = 0.0488 and P = 0.0166, respectively), than among healthy controls of the same ethnic groups. It was suggested that for the pooled sample of Avars and Kumyks, homozygosity for the recessive ee (RH) in combination with the Le(a-b-) phenotype, representing homozygosity for recessive allele le, was the risk factor for the development of psoriasis.     

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.     

Material for Studying the Gene Pools of Russia and Neighboring Countries: The Russian Population of the Pskov Oblast

The distributions of the genes and haplotypes for blood groups AB0, MN, Rhesus, P1, Lewis, and Kell–Cellano and biochemical markers of the genes of loci HP, GC, C"3, TF, 6PGD, GLO1, ESD, ACP1, and PGM1(including subtypes) were studied in 116 Russian subjects born in the Pskov oblast. Differences of this group from other Russian populations with respect to genetic structure were found.     

Variability of polymorphic gene markers in Buryat and Russian newborns from Ulan-Ude]

Variability of ten polymorphic loci (ABO, RhD, PGD, ACP, PGM1, GLO, ESD, ADA, GC, TF) was studied in 326 Buryat and 310 Russian newborns from Ulan-Ude city. Marked differences between two groups were observed in the distributions of allelic frequencies of ABO, RhD, PGD, ACP, PGM1, GLO, ESD, GC loci. Genetic similarities between Buryat and other mongoloids were estimated. Close similarity was observed between Buryat, Mongols, Yakut and Kyzyl.     

Red-cell enzyme polymorphisms in the Reggio Calabria province (Italy)

Acid phosphatase (ACP1), adenosine deaminase (ADA), esterase D (ESD), glyoxalase 1 (GLO1), phosphogluconate dehydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM1 and PGM2) polymorphisms have been studied in the Reggio Calabria province (Southern Italy). The ACP1*A allele and ADA, GLO1, PGD and PGM1 systems have frequencies similar to those reported for Sicily and Southern Italy.     

Polymorphism of immunogenetic and biochemical markers in Siberian (Tobol-Irtysh) Tatars

The polymorphism of immunogenetic and biochemical markers has been studied in nine populations of five ethnic-geographic groups of Siberian (Tobol-Irtysh) Tatars. Data on the frequency distributions of 33 alleles and 6 haplotypes of 14 loci (ABO, RHD, RHC, RHE, P, KEL, HP, C′3, TF, GLO1, ESD, ACP, PGD, and PGM1) in sample of 354 subjects have been obtained. Comparison with other ethnic groups has shown that the gene pool of Tobol-Irtysh Tatars contains an ancient autochthonic genetic stratum similar to that found in the neighboring Ob’ Ugrian population. Genetic relationships of various strengths with Central Asian Turks and the ethnic groups of the Volga region have been found, which apparently reflect different stages of the ethnogenesis of the Tobol-Irtysh Tatars.     

Genetic markers and psoriasis in three ethnic populations of Dagestan

Analysis of clinical material obtained from the individuals (49 psoriasis patients and 357 individuals without this disease) representing three ethnic populations of Dagestan (Avars, Dargins, and Kumyks) was performed. Polymorphism of the blood group loci AB0, Rhesus (RH), Kell, P, and Lewis, as well as of the protein-encoding loci for haptoglobin (HP), group-specific component (GC), and the enzymes, including glycosylase (GL01), esterase D (ESD), 6-phosphate dehydrogenase (6PDG), and acid phosphatase (ACP), was studied. It was demonstrated that in the pooled sample of Avars and Kumyks the Lewis system phenotype Le(a-b-) and the RH homozygotes (ee/ee) were statistically significantly more frequent among the psoriasis patients (P = 0.0488 and P = 0.0166, respectively), than among healthy controls of the same ethnic groups. It was suggested that for the pooled sample of Avars and Kumyks, homozygosity for the recessive RH allele (ee/ee) in combination with the Le(a-b-) phenotype, representing homozygosity for recessive allele le, was the risk factor for the development of psoriasis.     

Genetic Polymorphism of Erythrocytic Enzymes in Yakut Populations

Polymorphism of the erythrocytic enzymes PGM1, ACP1, ESD, and GLO1 was found in Yakut populations. The allelic frequencies of the polymorphic systems studied varied within the following ranges: PGM1*1+, 0.5833–0.7791; PGM1*1–, 0.0345–0.1176; PGM1*2+, 0.1250–0.2813; ACP1*A, 0.1429–0.3382; ACP1*B, 0.6548–0.8571; ESD*2, 0.1250–0.4643; and GLO1*1, 0.0116–0.2845.     

The Russian Gene Pool: Frequencies of Genetic Markers

Frequency distribution of several genetic markers was studied in ethnic Russians from the Moscow, Bryansk, Ryazan', Kostroma, Novgorod, Arkhangel'sk, and Sverdlovsk oblasts and Udmurtiya. Systems AB0, RH, HP, TF, GC, PI, C"3, ACP1, PGM1, ESD, GLO1, 6PGD, and AK were analyzed in most samples. New data on informative polymorphic genetic loci showed that the Russian gene pool mostly displays Caucasoid features. Some data on polymorphism of nuclear genome loci are presented. In addition, Y-chromosomal short tandem repeats (STRs) DYS19, DYS390, and DYCAIIwere analyzed in the Russian samples. STRs of the chromosome are particularly valuable for elucidating ethnogenetic processes in Eastern Europe. Frequency distributions of the Y-chromosomal markers in Russians were intermediate between those of West European populations and eastern Finno-Ugric ethnoses of the Volga region. A marked longitudinal gradient was revealed for frequencies of several molecular markers.     

Population genetic studies in three Chinese minorities

Three minority ethnic groups from China (Mongolians, Koreans, Zhuang) were examined with respect to the genetic markers GLO, GPT, ACP, ESD, 6-PGD, PGM₁ subtypes, C3, and TF. Significant variations were noted for the gene frequencies of GLO, GPT, ESD, sub PGM₁ between Zhuang and Mongolians; for GPT, ACP, ESD, sub PGM₁ between Zhuang and Koreans; and for GLO between Mongolians and Koreans.     

Materials for studying the gene pools of Russia and neighboring countries: the Russian population of the Pskov region

The distributions of the genes and haplotypes for blood groups ABO, MN, Rhesus, P1, Lewis, and Kell-Cell-ano and biochemical markers of the genes of loci HP, GC, C'3, Tf, 6PGD, GLO1, ESD, ACP1, and PGM1 (including subtypes) were studied in 116 Russian subjects born in the Pskov oblast. Differences of this group from other Russian populations with respect to genetic structure were found.     

Genetic polymorphism of erythrocytic enzymes in Yakut populations

Polymorphism of the erythrocytic enzymes PGM1, ACP1, ESD, and GLO1 was found in Yakut populations. The allelic frequencies of the polymorphic systems studied varied within the following ranges: PGM1*1+, 0.5833-0.7791; PGM1*1-, 0.0345-0.1176; PGM1*2+, 0.1250-0.2813; ACP1*A, 0.1429-0.3382; ACP1*B, 0.6548-0.8571; ESD*2, 0.1250-0.4643; and GLO1*1, 0.0116-0.2845.     

The Russian gene pool. Frequency of genetic markers

Frequency distribution of several genetic markers was studied in ethnic Russians from the Moscow, Bryansk, Ryazan', Kostroma, Novgorod, Arkhangel'sk, and Sverdlovsk oblasts and Udmurtiya. Systems AB0, RH, HP, TF, GC, PI, C'3, ACP1, PGM1, ESD, GLO1, 6PGD, and AK were analyzed in most samples. New data on informative polymorphic genetic loci showed that the Russian gene pool mostly displays Caucasoid features. In addition, Y-chromosomal short tandem repeats (STRs) DYS19, DYS390, and YCAII were analyzed in the Russian samples. STRs of the chromosome are particularly valuable for elucidating ethnogenetic processes in Eastern Europe. Frequency distributions of the Y-chromosomal markers in Russians were intermediate between those of West European populations and eastern Finno-Ugric ethnoses of the Volga region. A marked longitudinal gradient was revealed for frequencies of several molecular markers.     

The Russian gene pool. Genogeography of erythrocyte genetic markers (ACP1, PGM1, ESD, GLO1, 6-PGD)

The study continues the series of works on the Russian gene pool. Gene geographic analysis of five erythrocytic gene markers best studied in the Russian population (ACP1, PGM1, ESD, GLO1, and 6-PGD) has been performed. Gene-geographic electronic maps have been constructed for 13 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of eight alleles (ACP1*A, ACP1*C, PGM1*2+, PGM1*2-, PGM1*1-, ESD*1, GLO1*1, and PGD*C) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.     

Genetic structure of Mongolic-speaking Kalmyks.

Genetic polymorphisms of blood groups ABO and RH D, serum proteins HP, TF, and GC, and red cell enzymes ACP1, PGM1, ESD, GLO1, and SOD-A have been reported for three tribes (Torguts, Derbets, and Buzavs) of the Volga's Kalmyk-Oyrats. The Kalmyks exhibit genetic markers that are characteristic of Central Asian populations, namely, high allelic frequencies for ABO*B, TF*C2, GC*IF, ESD*2, and GLO1*2, and the rare incidence of individuals with the RH-negative phenotype. Genetic distance measures reveal that close genetic affinities exist between the Derbets and Buzavs, but both populations differ significantly from the Torguts. Collectively as an ethnic group, the Kalmyks genetically resemble the contemporary Buryats of the Baikal region of southeastern Siberia and the Mongols of Mongolia. The transplantation of the Kalmyk-Oyrats from their homeland near Lake Baikal to their current residence (4500 km) near the Caspian Sea and their subsequent isolation for more than 300 years have not appreciably altered the gene frequencies from the parental populations for frequencies of standard genetic markers.     

Bulgarian Jews in Israel: genetic blood markers. Red-cell antigens, serum proteins and red-cell isozymes

Two hundred and sixteen unrelated Bulgarian Jews were typed for the following genetic systems: ABO, MNS, Rh, Kell and Duffy of the blood groups; ADA, AK1, ACP1, ESD, GLO, PGD, PGM1 and PGM2 of the red-cell enzymes, and for the serum proteins HP, GC and PI. A comparison of observed gene frequencies with those of two other Sephardi Jewish groups, from Libya and Morocco, disclosed significant heterogeneity in several systems. This was mostly due to Moroccan Jews differing from Bulgarian or from both the Libyan and Bulgarian Jews. A comparison of gene frequencies in Bulgarian Jews with those in Oriental Jews from Iraq and in Ashkenazi Jews from Poland disclosed a similarity between the three groups in Rh, ADA, GLO, PGM1 and HP. The frequencies for the above systems in the three groups were closer to those of Middle Easterners than to those of Europeans. A different pattern was observed for GC and PI, in which Bulgarian resembled Polish Jews and differed significantly from Iraqi Jews. This probably reflects an outcome of convergent adaptive processes.     

Genetic Polymorphism of the Blood Groups and Erythrocytic Enzymes in Three Ethnic Territorial Groups from the North of European Russia

Using the data on five red cell markers (AB0, PGM1, ACP1, GLO1, and ESD) polymorphisms, the population genetic structure of three ethnic territorial groups from the north of European Russia (Continental Nentsy, Kola Saami, and Russian Coast-dwellers) was described. In general, the groups studied a Caucasoid pattern of the frequency distribution of erythrocytic marker alleles. However, a substantial contribution of a Mongoloid component to the Nenets gene pool, expressed as a high frequency of the PGM1*1allele along with a low frequency of the GLO1*1allele, was observed. Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean F _ST= 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1*locus (F _ST= 0.056).     

Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]

Comprehensive analysis of the contribution of genetic factors into predisposition to alcoholic toxic cirrhosis (TC) was performed. The ABO, RH, HP, TF, GC, PI, ACP1, PGM1, ESD, GLO1, and GST1 genetic polymorphisms were compared in 34- to 59-year-old male TC patients and control donors of the same sex and age. The phenotypic frequencies in the TC group deviated from the theoretically expected values; the main difference was the excess of rare homozygotes for the loci GC, ACP1, ESD, and GLO1. In the TC patients, the observed heterozygosity (Ho) was considerably lower than the theoretically expected value (H(e)). Wright's fixation index (F) in the TC patients was 30 times higher than in the control group (0.0888 and 0.0027, respectively). The frequencies of PI*Z and PI*S, the PI alleles that are responsible for lower concentrations of proteinase inhibitor, were 12 and 6 times higher in the TC than in the control group. The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following alleles of six independent loci: ABO*0, TF*C1, TF*C2, PI*M1, PI*Z, ACP1*C, PGM1*1+, PGM1*1-, PGM1*2-, GST1*0, and GST1*2. The haptoglobin level was significantly higher and the serum transferrin level was drastically lower in all phenotypic groups of TC patients than in control subjects. The concentrations of IgM and IgG depended on the HP, GC, and PI phenotypes. The total and direct reacting bilirubin concentrations depended on the erythrocytic-enzyme phenotypes (ACP1, PGM1, and GLO1) in both TC and control groups.