Genetic structure of western Sicily

The distribution of AB0, RH, KELL, ADA, GLO1, AK, 6PGD, ESD, ACP, G6PD, C3, GC and APOB markers were studied in a sample coming from the province of Trapani (western Sicily, Italy). The results were discussed in the contest of the Mediterranean populations. Our analysis confirms the existence of a certain genetic differentiation within Sicily and suggests a strong heterogeneity between our sample and the North African populations. Moreover our data point out the genetic affinity among Sicily, Southern Italy and Greece.     

Red cell enzyme and serum protein polymorphisms in South Korea

Two population groups in South Korea, one from Kwangju and one from Kangreung, were studied in regard to the erythrocyte enzyme polymorphisms GPT, ACP, GLO, ESD, 6PGD, ADA, AK, PGP and subtypes of PGM1 as well as regarding the serum protein variants of C3, HP, BF, PLG, AMY and the subtypes of GC, TF and PI. The results were compared with data of the population groups from the area of Cheju Island, Taejon and Seoul. The Korean population showed a rather high degree of genetic homogeneity.     

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.     

Structuring the genetic heterogeneity of the Basque population: a view from classical polymorphisms

In this study we analyze 18 classical polymorphisms (ABO, Rh, MNSs, Lewis, P, Duffy, Kell, ADA, ESD, PGM1, PGD, AK1, ACP1, GLO1, HP, GC, TF, and PI) in over 2000 autochthonous individuals from 14 natural districts in three provinces of the Basque Country (Alava, Guipuzcoa, and Biscay). Heterogeneity analysis via the chi2 test and a calculation of F(ST) indicate that there is significant genetic heterogeneity between the Basque districts. The R matrix informs us that this heterogeneity is not significantly concentrated in a single district or in the districts of a single province, but is rather distributed among several districts belonging to the three provinces analyzed. We undertake to assess the influence of various historical, geographical, and cultural factors on the genetic structure of the Basque population. Analysis suggests that allele distribution is geographically patterned in the Basque Country. The gradient distributions observed in the case of some alleles (ABO*O, RH*cDE, RH*cde, MNS*MS, and ACP1*C) on the basis of Moran's autocorrelation coefficient I, along with the influence of the two main travel routes through the Basque Country (western route through Bilbao and eastern route through Vitoria), suggest that the gene flow tends toward the coast. As regards other factors considered (administrative division, repopulation processes, linguistic heterogeneity, and north vs. south cultural heterogeneity), we detected only a certain influence exerted by an old tribal differentiation (2000 B.P.), which would diminish with the passage of time.     

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.     

Red cell and serum protein polymorphisms in Sardinia

Four Sardinian population samples, from the provinces of Cagliari, Oristano, Nuoro and Sassari, were studied with regard to the erythrocyte enzyme systems ACP, ESD, PGM1, ADA, AK, 6PGD and Dia, and to the serum protein systems GC and C3. The findings showed a rather high degree of genetic heterogeneity of the Sardinians compared to the other populations from the Mediterranean area (Continental Italy, Sicily, Spain, North Africa).     

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.     

Biodemoraphy and genetics of the Berba of Benin

Genetic structure of the Berba of Benin was studied on the basis of biodemographic data and ABO, RH, MNS, KEL, JK, FY, ACP1, ADA, AK1, CA2, ESD, GLO1, G6PD, PGD, PGM1 (subtypes and thermostability), PGM2, PGP, SODA, HBα, HBβ, HBδ, BF, C3, and Hp gene frequencies. Comparisons were carried out with other populations of Benin and of sub-Sahara Africa. Correspondence analysis revealed genetic differentiation among the three main groups of populations who inhabit sub-Saharan Africa: Bushmen-Hottentots, Pygmies, and Negroes. The genetic differentiation of the Negroes in relation to their linguistic affiliation and geographic localization was evident. The first group included the populations belonging to the Bantoid subfamily of the Nigritic linguistic stock living in southern Africa; in the second subcluster the populations of central-eastern Africa were localized, and the third subcluster included the populations living in the West. © 1996 Wiley-Liss, Inc.     

Genetic heterogeneity among the Hindus and their relationships with the other “Caucasoid” populations: New data on Punjab-Haryana and Rajasthan Indian States

The genetic structure of Rajasthan Hindus and Punjab-Haryana Hindus and Sikhs has been studied for ABO, RH, APOC2, C6, C7, F13A, F13B, HP, ORM1, ACP1, ADA, AK1, ESD, GLO1, PGD, PGM1 subtyping, and PGP. This is the first genetic survey on Hindus of Rajasthan. Furthermore, many of these markers have never been studied on Hindus before (APOC2, C6, 07, F13A, F13B, ORMl, PGP). These data, together with those previously available for Hindus, have been utilized to analyze the within-Hindus genetic heterogeneity by R_ST statistic and correspondence analysis. The genetic relationships of Hindus to other Causcasoid populations were also investigated. In the first analysis, two eastern states (Orissa and Andhra Pradesh) were found to be quite separate from each other and clearly distinct from the northwestern and western states. Out of the markers which could not be utilized in this analysis, PGM1 subtyping turned out to discriminate between the Dravidian—speaking and the Indo-Aryan-speaking Hindus. The second analysis shows a clear-cut separation of Hindus from Europeans, with Near Eastern and Middle Eastern populations genetically in an intermediate position. © 1995 Wiley-Liss, Inc.     

Genetic polymorphism of blood group and erythrocyte enzymes in three ethno-territorial groups of the northern European part of 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*1 allele along with a low frequency of the GLO1*1 allele, 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 FST = 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 (FST = 0.056).     

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.     

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 population structure of two African-Ecuadorian communities of Esmeraldas

The genetic structure of two African-Ecuadorian communities, Rio Cayapas and Viche (Esmeraldas province, northwest Ecuador), was studied on the basis of ACP1, ADA, AK1, CA2, ESD, GLO1, G6PD, PGD, and PGM1 subtypes and thermostability, PGM2, HBβ, F13A, F13B, ORM1, AHSG, C6, C7, and APOC2 gene frequency, and migration data on 255 individuals. The fixation index of Wright (F_ST), correspondence, and genetic distance analysis were applied to compare the genetic relationships between these communities and other American populations of African ancestry. F_ST values from the migration data and surname origins suggest that Rio Cayapas is genetically more isolated and shows less mobility and admixture than does Viche. The genetic admixture estimates indicate a large contribution of African genes to the gene pool of both communities (74.3% to 58.4%), whereas the proportion of the Amerindian component differs significantly (14.5% in Rio Cayapas to 27.6% in Viche). Am J Phys Anthropol 109:159–174, 1999.© 1999 Wiley-Liss, Inc.     

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 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).     

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.     

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.     

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.     

Genetic polymorphisms in juvenile-onset diabetes

Nine genetic polymorphic systems (ACP1, PGM1, ADA, AK, G-6-PD, Hp, ABO, Rh, MN), were studied in a series of 138 subjects affected by JOD. Differences between diabetic patients and controls were observed in the distribution of phenotypes of the red cell acid phosphatase (ACP1), and the ABO and MN blood groups.