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.     

Characteristics of the gene pool of the Gagauz population of Moldova]

Population genetic data on Gagauzes from Moldova are reported for the first time. Blood groups AB0 and Rh and biochemical markers of genes HP, TF, GC, and PGM1 were determined in 190 Gagauzes. The following allelic frequencies were determined: AB0*0, 0.5241; AB0*A, 0.3279; RH*d, 0.4571; HP*1, 0.3544; TF*C1, 0.7472; TF*C2, 0.1770; TFC3, 0.0730; TF*B, 0.0028; GC*1F, 0.1025; GC*1S, 0.5932; GC*2, 0.3043; PGM1*1+, 0.5286; PGM*1-, 0.1000; PGM1*2+, 0.2607; and PGM1*2-, 0.1107. The data obtained indicate that the gene pool of Gagauzes is similar to those of neighboring southeastern European populations.     

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 markers and insulin-dependent diabetes mellitus (IDDM) in Sardinia.

The distributions of some genetic markers in 106 Sardinian individuals with insulin-dependent diabetes mellitus (IDDM) and in a control sample of 186 nondiabetic Sardinians were studied. A strong association of IDDM with some phenotypes of ACP, PGM1, C3 and GC genetic markers was found. In the IDDM patients there is a significant increase of ACP B, ACP B-C, PGM1 1S-1F and GC 1S-2 phenotypes. Particularly the individuals with the ACP B, PGM1 1S-1F and GC 1S-2 phenotypes show the highest values of the relative risk (RR) and the attributable risk (AR) and seem to be more susceptible to IDDM disease.     

The gene pool of Belgorod oblast population: Study of biochemical gene markers in populations of Ukraine and Belarus and the position of the Belgorod population in the Eastern Slavic gene pool system

The characteristics of the gene pools of indigenous populations of Ukraine and Belarus have been studied using 28 alleles of 10 loci of biochemical gene markers (HP, GC, TF, PI, C′3, ACP1, GLO1, PGM1, ESD, and 6-PGD). The gene pools of the Russian and Ukrainian indigenous populations of Belgorod oblast (Russia) and the indigenous populations of Ukraine and Belarus have been compared. Cluster analysis, multidimensional scaling, and factor analysis of the obtained data have been used to determine the position of the Belgorod population gene pool in the Eastern Slavic gene pool system.     

Genetic polymorphism of the erythrocytic enzymes in the Buryat populations

Polymorphism of seven erythrocytic enzymes PGM1, ESD, CLO1, PGD and PGP were studied in five samples of Buryats. The main investment into differentiation between populations has been made by the following systems: CLO1, PGD and PGM1. Analysis of genetic distances between populations demonstrated that there was some parallelism among the genetic and anthropological differentiation in the Buryat populations. The groups of the Agingsky county (the area to the east from the Baikal Lake) have probably the largest proportion of the Caucasian genes as compared to other populations studied. One of the characteristics of the Buryats, especially for the population to the east from the Baikal Lake, is high frequency of the PGD allele. The rate of the genetic variability on the intra-population level is higher than the difference between populations. This means that the divergence between the Buryats populations is not very strong. Consideration of the genetic variability on the intra-population level seems to be more perspective for ecogenetic estimation of the adaptive genetic processes than analysis of the differences between populations studied.     

Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations

About 3,500 subjects from Italy and Czechoslovakia have been analyzed by acid starch gel electrophoresis for the subtyping of PGM1 polymorphism. The Italian sample included three different subgroups, from Northern, Central and Southern Italy. The allele frequencies found in the three groups do not differ significantly from each other; the observed values in the pooled sample are: PGM1S1 = 0.594, PGM1F1 = 0.118, PGM2S1 = 0.231, PGM2F1 = 0.057. In the Czechoslovakian group, which differs significantly from the Italian population, the following allele frequencies were found: PGM1S1 = 0.639, PGM1F1 = 0.118, PGM2S1 = 0.180, PGM2F1 = 0.063. The analysis of 217 families did not show any exception to Mendelian inheritance of the patterns.     

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.     

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.     

Population genetics of the peoples of Iran I. Genetic polymorphisms of blood groups,serum proteins and red cell enzymes

Genetic polymorphisms of six blood groups and seven biochemical genetic markers were investigated in six Iranian populations (Turks, Kurds, Lurs, Zabolis, Baluchis and Zoroastrians). Eight of the genetic systems (ABO, MNSs, Kidd, C3, AP, AK, PGM1 and EsD) showed conclusive heterogeneity among these populations. Comparison of gene frequencies with the few available samples of Iranian populations demonstrated an intra-ethnic and extensive overall genetic diversity in the Iranian plateau. A gradient of C3*F gene was also discernible within the geographical region of Iran which may reflect the relics of the historical movements of different racial groups in this region. The present genetic variation may reflect the differences in the structure of these populations, the analysis of which is further attempted in the accompanying paper.     

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.     

The gene pool of Belgorod oblast population: study of biochemical gene markers in populations of Ukraine and Belarus and the position of the Belgorod population in the Eastern Slavic gene pool system

The characteristics of the gene pools of indigenous populations of Ukraine and Belarus have been studied using 28 alleles of 10 loci of biochemical gene markers (HP, GC, TF, PI, C'3, ACP1, GLO1, PGM1, ESD, and 6-PGD). The gene pools of the Russian and Ukrainian indigenous populations of Belgorod oblast (Russia) and the indigenous populations of Ukraine and Belarus have been compared. Cluster analysis, multidimensional scaling, and factor analysis of the obtained data have been used to determine the position of the Belgorod population gene pool in the Eastern Slavic gene pool system.     

Variability of Minisatellite Loci and mtDNA in Individuals with and without B Chromosomes from Populations of the Grasshopper <Emphasis Type="Italic">Dichroplus elongatus</Emphasis>

Dichroplus elongatus is an extensively distributed South American grasshopper considered a pest of major crops. Argentinean populations show a widespread B-chromosome polymorphism which could be maintained as the result trade-offs among opposite selective effects and interactions with their mitotic instability. The main objective of this study was to evaluate the relationships between B chromosomes and mtDNA sequences coupled with minisatellites loci, and verify the genotype/karyotype covariation in 12 populations located at both sides of Paraná River (Eastern and Western Regions). B carrier individuals showed significantly higher genetic diversity (H_E and X) respect to standard individuals. AMOVAs based on nuclear loci and mtDNA sequence datasets showed statistically significant levels of differentiation among karyotypes in the Eastern Region. Cluster analysis through Bayesian procedure considering nuclear loci splits B carriers and standard individuals into different genetic clusters in some Eastern populations. The Bayesian phylogenetic analysis showed two divergent mtDNA clades. Haplogroup 1 is composed exclusively of standard individuals, however all B chromosome carriers are included in haplogroup 2. There is an association between some haplotypes and B chromosomes and a strong effect of phylogenetic signal on B chromosome population structure. Genetic differentiation between karyotypes at Eastern Region revealed by AMOVA, Bayesian approaches and clustering analysis based on uniparental and biparental inherited markers may be due to the inherent nature of the B chromosome, to karyotype biased dispersal or to difference tolerance of B chromosomes on different genetic background. The combination of molecular and chromosome analysis performed in this study indicated that B chromosomes in D. elongatus is an important factor in explaining the genetic population structure at minisatellite and mitochondrial DNA levels.     

Genetic structure of the population of Sicily.

Genetic heterogeneity within Sicily was investigated on the basis of ACP1, ADA, ESD, GLO1, PGD, PGM1, PGM2, SODA, ABO, and MN gene frequencies, and compared to those of other regions of Italy for which these same loci have been examined. Correspondence analysis revealed no differences within the island, at least at the provincial level, but showed genetic differentiation among Italian regions, distinctly clustering northern, central, and southern populations, respectively. These data indicate a close relationship between Sicily and southern Italy. In addition, the contribution of Middle Eastern populations to the gene pool of Sicily was evident.     

The Russian Gene Pool: Gene Geography of Erythrocytic Gene Markers (ACP1,PGM1,ESD,GLO1, and 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, and6-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.     

Population genetic studies in the Kimberley of Western Australia

More than 800 blood samples from members of 13 tribal groups in the northwest of Australia have been tested for 18 enzyme systems controlled by 21 loci and for haemoglobin. Two novel alleles, PGM2(11) and ACP1F, are each restricted to a single tribal population, suggesting relatively recent mutations. Other alleles conform very broadly with their distributions in other Australian Aboriginal populations. In particular, PGM2(3) maintains its inland distribution whilst PGDE and PEP B6 continue to be restricted to the north of the continent. Comparisons between tribes show the Baada to be distinctive, with high values of PGM1(2), GPT2, CA2(4) and ESD2 as well as having the novel allele ACP1F.     

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 polymorphisms in Sardinia

Acid phosphatase (ACP1), esterase D (ESD) and phosphoglucomutase 1 (PGM1) polymorphisms have been studied in Sardinia and the following gene frequencies have been found: ACP1*A = 0.235, ACP1*B = 0.684 and ACP1*C = 0.081; ESD*2 = 0.118 and PGM1*2 = 0.233. These findings confirm the genetic uniqueness of Sardinians compared to the other Italian and European populations.     

Genetic variability in the endemic <Emphasis Type="Italic">Leucojum valentinum</Emphasis>

The genetic variability of Leucojum valentinum Pau (Amaryllidaceae), a vulnerable endemic species restricted to a small area in the region of Valencia (Eastern Spain), has been studied using random amplified polymorphic DNA (RAPD) markers. A total of 197 individuals from eleven populations were studied using 13 RAPD primers. Our results show high variability for the species, low differentiation among populations and uncorrelated levels of genetic variability and population size. Four groups in which three populations (SAG, PUG and COL) are separated from all the others were found, but without connection to geographical location.     

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.