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.     

The Dagestan gene pool: Polymorphism of immunogenetic and biochemical markers in Kumyks

This study is a part of long-term investigations devoted to the analysis of the gene pool of Dagestan ethnic groups. The phenotype (in %), gene, and haplotype frequencies in Kumyk ethnic group are reported. A total of 39 alleles and six haplotypes of 14 loci (AB0, Rhesus, P, Levis, Kell, HP, GC, C’3, TF, 6PGD, GLO1, ESD, ACP, and PGM1) of immunobiochemical genetic marker systems were examined. Rare haplotypes of the Rhesus system were identified, including CDE in the Karabudakhkent population with the frequency of 0.030, and Cde and cdE in the Dorgeli population with the frequencies of 0.034 and 0.38, respectively. Similarly to the other ethnic populations of Dagestan examined, Kukyk populations carried rare, albeit typically “Caucasoid” gene ACP1 ^c of the AcP1 locus. The frequency of this allele in the two populations was similar, constituting 0.031 for Karabudakhkent and 0.032 for Dorgeli. In Kumyks, allele frequencies of the AB0, Rhesus, P, Lewis, Kell, HP, GC, C′3, TF, 6PGD, GLO1, ESD, ACP, but not PGM1, systems were similar to the mean allele frequencies at these loci observed in the other ethnic groups from the Dagestan, Caucasus, and the whole European historical ethnographic province. At the same time, the allele frequency values obtained were different from those for the populations of Kazakhstan, Central Asia, Siberia, and the Ruswsian Far East. Thus, the results obtained for classical genetic markers indicate that Kumyks are genetically closer to the indigenous populations of Dagestan than to Turkic-speaking populations. Analysis of the fit of the observed phenotype frequencies to the Hardy-Weinberg expectations showed that compared to other indigenous populations of Dagestan examined, in Kumyks the genetic state of the population upon random allele association was close to equilibrium. Probably, this state was determined by practical absence of the consanguineous marriages upon preservation of intra-aul endogamy.     

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.     

Phophoglucomutase first locus polymorphism as revealed by isoelectric focusing in Southern Africa

Eleven Southern African populations (representing European, Asian and Negroid populations) have been typed for the first locus phosphoglucomutase (PGM1) using isoelectric focusing (pH range 5.0-8.0) in acrylamide gels. The gene frequencies of the four common alleles at this locus in these populations were compared to those found previously in European and Negroid populations. Marked differences in gene frequencies were observed: Negroes have a lower PGM1(2-) compared with Caucasoids due to a lower PGM1(2-) frequency, Indians a relatively high PGM1(2) due to a higher frequency of the PGM1(2+) allele. The Afrikaans and Ashkenazim do not differ appreciably from their European counterparts. The appearances of the rarer PGM1(6) and PGM1(7) alleles on isoelectric focusing are described and some kinetic properties examined. The PGM2(2-1), or 'Atkinson' phenotype, can also be detected with this technique.     

Genetic structure of a Sakha population from Siberia and ethnic affinities

The red cell enzymes ACP1, ESD, GLO1, PGM1 and RDS and the serum proteins GC, HP, PI, and TF were determined for samples of 150 and 144 Sakha, respectively. The Sakha, a Turkic-speaking population, inhabit the Sakha-Yakutia Republic in northeastern Siberia. High gene frequencies were found for ACP1*A, GLO1*1 and GC*1F, whereas no P1*S or P1*Z alleles were found. In addition, 1 heterozygous phenotype with ACP1*C and 2 heterozygous phenotypes with ESD*7 were found. The genetic distance measures show close affinities of the Sakha population to Buryats (especially Western Buryats), Mongols, and Evenks, whereas the genetic distance to Turkic-speaking Altay and Tuvan populations is great.     

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.     

Population genetic studies of the Philippine Negritos. I. A pilot survey of red cell enzyme and serum protein groups

Electrophoretic surveys of red cell enzyme and serum protein systems representing 21 genetic loci were carried out on 129 blood samples of the Negritos of Pampanga, Central Luzon, the Philippines. Nine (out of 16) red cell enzyme loci and four (out of five) serum protein loci showed polymorphic variation. Low frequencies of ACP 1A, GPTs1, ESD2, and Hp1, and a markedly high frequency of PGM12 were contrasted to those in non-Negrito Filipinos. Variant ESD phenotypes with a slowly migrating isozyme occurred in high frequency. The new allele designated as ESD3Negrito (ESD3N) had a frequency of .10 +/- .019. In AK, a variant phenotype indistinguishable from AK 2-1 was observed in 14% of the sample. In the Gc system, a fast migrating variant was discovered in high frequency which was distinct from Gc Ab and Gc J. The variant allele, denoted GcNegrito (GcN), had a frequency of .21 +/- .025. A relatively high degree of allelic diversity in the Negrito sample was also suggested by the average heterozygosity for 21 loci screened (.165), which is compared to that of the Japanese population (.140).     

Molecular polymorphism of O alleles in five populations of different ethnic origins

Sequences of exons 6 and 7 of the O allele of the ABO gene were studied in 317 individuals of the O phenotype from five different ethnic groups (Basques, Berbers, Akans from the Ivory Coast, and Amerindians: Cayapas from Ecuador and Aymaras from Bolivia). Twenty-one O alleles were characterized, among which 9 differed from all O alleles reported to date. The nine alleles differed from either the O01 allele (four out of nine) or O02 allele (five out of nine) by one to three point mutations. The number of different O alleles in population samples varied greatly: the highest number (13) was observed in Akans, and the lowest (5) in Amerindians. Some rare alleles previously reported by others at low frequencies were found with high frequencies in the Akans. The results also revealed a decreasing frequency of Ov7 alleles from south to north (Akans, Berbers, Basques). Berbers and Basques share two rare alleles, Ov6 and O03, which were not encountered in the other populations studied here.     

Phosphoglucomutase-1 subtypes: polymorphic occurrence of PGM1*7+ and geographical variation in Japan

The distribution of gene frequencies in the phosphoglucomutase-1 (PGM1) system was investigated in two Japanese populations from Yamaguchi (Western Japan) and Okinawa (Southern Japan) using an improved isoelectric focusing method permitting the successful detection of the most anodal variant PGM1 3+. PGM1*7+ occurred with a polymorphic frequency of 0.012-0.021. A difference in the gene frequency was observed between the two populations. In comparison with neighboring populations, the Yamaguchi population was similar to Mongolians and Koreans in North China, and Okinawa to Zhuang in South China.     

Population genetics of red cell enzymes in Pygmies: a conclusive account

In the course of a long-term research project, three groups of Pygmies and some non-Pygmy Central Africans have been examined for the following red cell enzyme markers: ACP, PGM1, PGM2, PEPA, PEPB, and PEPC, AK, ADA, and PHI. Several other red cell enzymes (ESD, CA1 and CA2, GPT, GLO, and DIA1) have been studied in only some of these groups. This paper reports all the information we obtained, including what we have already published. The following conclusions can be drawn from the whole body of data: (1) Gene patterns of Pygmies are those typical of other Africans (e.g.: lack of ADA2 and AK2 genes, low GPT2 gene frequency, polymorphism of the CA2 locus, and presence at polymorphic frequencies of PEPA2 allele. (2) Superimposed on this African genetic makeup, a number of Pygmy characters were identified, namely, a private polymorphism for the PGM26 Pygmy allele and possibly one for the PEPC2 allele, and particularly high ACPR and low PGM12 gene frequencies. (3) Some markers, especially PGM1 and ACP, turned out also to discriminate efficiently among different groups of Pygmies.     

Genetic characterization of the historical Albanian ethnic minority of Calabria (southern Italy)

Three historical ethnic minorities are present in Calabria: Albanians, Greeks, and Occitans. The Albanian ethnic minority is the more populous, having settled in Calabria between the 15th and 17th centuries, and these populations are now located in the provinces of Cosenza and Catanzaro. In the present study the Albanian population structure is analyzed based on the allele frequencies of six classic genetic markers: ACP, GC, PGM1, AK, ADA, and 6PGD. The results show a significant heterogeneity between the Albanian population in Calabria and the population in Molise. Therefore the cultural and reproductive isolation of the Albanian ethnic minority of Calabria is related to a great genetic peculiarity. Moreover, the frequencies of some alleles, particularly those of the PGM*1W31 variant, and the analysis of the R matrix still show the actual peculiar genetic structure of the Albanians of Calabria, although the genetic flow is evident in the decrease of endogamy and in the increase in the degree of mixing.     

Comparative study of red cell enzymes in Mirpur (a Portuguese-descendant community) and a neighbouring Hindu population of Gopalchak

Five enzyme systems (ACP1, PGM1, MDH, LDH and EsD) have been studied in Mirpur and Gopalchak. The allele PGM13 is present in polymorphic frequency in Mirpur. In respect of ACP1 and PGM1 loci, these two populations differ significantly.     

Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies,and linkage disequilibrium data.

Some populations of Rwanda (South Twa Pygmies, Hutu, and Tutsi) have been analyzed by acid starch gel electrophoresis for the subtyping of PGM1 polymorphism. The new polymorphic third PGM11 allele, the PGM1(1Twa), which we recently detected in Twa Pygmies from North Rwanda, has not been found in this survey, whereas the rare PGM1(6) allele attains subpolymorphic frequencies in all groups. Comparison between the various populations of Rwanda shows that they differ significantly from each other with the exception of South Twa Pygmies and Tutsi. A relatively low frequency (9.6%) of the PGM1(2S) allele appears to be typical of North Twa Pygmies; a low frequency of PGM1(2F) (1.2%-3.6%) has been found in all these groups but not in the Hutu (6.4%); and a particularly high incidence of the PGM1(1F) allele (the highest so far reported) has been observed in the South Twa Pygmies (20%) and in the Tutsi (18%). The PGM1(1Twa) and PGM1(6) enzymes, which in acid starch gel are not distinguishable, can be clearly differentiated by isoelectric focusing. In addition, the same technique has shown that the rare PGM1(7) allele observed in one Hutu is different from that found at polymorphic frequency in the Japanese and from a rare PGM1(7) allele found in Germany. On the very likely hypothesis that the PGM1(1S), PGM1(1F), PGM1(2S), and PGM1(2F) result from variations at two different polymorphic sites, 1/2 and F/S, within the PGM1 structural gene, all the available population data have been analyzed to investigate whether preferential combinations (haplotypes) were identifiable. Whereas Caucasians show a prevalence of 2F and 1S combination with an 8.02% mean value of linkage disequilibrium expressed as % Dmax, from the very few and scattered African data, it is impossible to draw any inference at present.     

To the research of the gene pool of the Gagauz population of Moldavia

Population genetic data on Gagauzes from Moldavia are reported here for the first time. AB0 and Rhesus blood groups, serum protein group (HP, TF, GC) and the red cell enzyme polymorphism PGM1 were determined in 190 Gagauzes. In addition to this the ability to taste PTC was tested. The following allele frequencies were found: AB0*0 = 0.5241, AB0*A = 0.3279, AB0*B = 0.1480; RH*D = 0.6083, RH*d = 0.3917; HP*1 = 0.3544, HP*2 = 0.6456; TF*C1 = 0.7472, TF*C2 = 0.1770, TF*C3 = 0.0730, TF*B = 0.0028; GC*1F = 0.1025, GC*1S = 0.5932, GC*2 = 0.3043; PGM*1+ = 0.5932; PGM*1- = 0.1000, PGM*2+ = 0.2607, PGM*2- = 0.1107. The frequency of the PTC*T allele was found to be 0.5298. These frequencies and genetic distance analyses show that the gene pool of the Gagauzes is similar to that of neighbouring southeastern European populations.     

Distribution of red cell phosphoglucomutase-1 subtypes in several Mongoloid populations of East Asia

The distribution of red cell phosphoglucomutase (PGM) subtypes was determined by starch-gel electrophoresis and isoelectric focusing in a group of 2,484 unrelated individuals from ten Mongoloid populations of East Asia. The sample comprised 998 Chinese from various localities--Singapore, 325; Malaysia, 270; Taiwan, 276; Hong Kong, 67; Fouzhou, 60--as well as 342 Koreans; 252 Filipinos; 529 Thais; 336 Malays, and 27 Indonesians. Altogether 15 phenotypes controlled by four common and five rare alleles at the PGM1 locus were observed in these populations. The frequency of the most frequent allele (PGM1+) varied from 0.56 to 0.74, with the highest frequency observed in the Singapore Chinese and the lowest in the Malays. Within the Chinese from different localities a significant degree of heterogeneity was observed at the PGM1 locus. The rare allele (PGM17)6 was observed only among the Chinese, Thais, and Malays, while the PGM1 was lacking in the Filipinos. A new allele with ahigh pI (6.5) was observed in a low frequency in all the populations but the Malays.     

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.     

The gene pool of Belgorod oblast population: The distribution of immunological and biochemical gene markers

The frequencies of 33 alleles of 12 loci of immunological and biochemical gene markers (AB0, RH, HP, GC, TF, PI, C′3, ACP1, GLO1, PGM1, ESD, and 6-PGD) have been estimated in the indigenous Russian and Ukrainian populations of Belgorod oblast. Differences of the Belgorod population from other populations of Russia with respect to the genetic structure have been determined. It has been found that the frequency distributions of all alleles studied in the Belgorod population are similar to those typical of the genetic structure of Caucasoid populations.     

Red cell enzyme polymorphisms in three Iranian population samples: Tabriz,Yazd, Mashhad

Three population samples from Iran (Tabriz, Yazd, Mashhad) have been typed for four enzyme group polymorphisms: ACP1, ESD, AK, and PGD. The phenotype and allele frequencies are presented and compared with other Iranian populations. The AK allele frequencies do not show significant intergroup heterogeneity, whereas ACP1, ESD and PGD allele frequencies disclose obvious heterogeneity. The possible reasons therefore are discussed.     

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.     

Diversity of some gene frequencies in European and Asian populations. VI. Geographic patterns of PGM and ACP

Genetic variation at the phosphoglucomutase-1 (PGM) and acid phosphatase (ACP) loci, in 160 and 120 European and Asian populations, respectively, is described by spatial autocorrelation statistics and directional variograms. Short-distance patterns of gene frequencies correspond to those predicted by models of isolation by distance, but long-range differentiation of populations is observed as well. A possible role of climatic selection in maintaining the PGM polymorphism is supported by the north-south orientation of the gradient for that locus, but not by biochemical evidence. By and large, the observed patterns of gene frequencies seem to reflect a combination of demographic processes, subdivision and isolation of local populations among them.