Genetic polymorphism of blood groups and erythrocytes enzymes in population groups of the Republic of Macedonia.

This study presents the results of an examination of 3 blood-group systems (ABO, Rhesus, and P1) and erythrocyte enzymes (ADA, AK, ALADH, PGD, SAHH, PGM1, PGM3, GPT, GOT, ACP, UMPK, ESD and GLO) in populations that reside in R. Macedonia. Four population samples from the Republic of Macedonia (129 Macedonians from Skopje, 98 Albanians from Skopje, 95 Aromanians from Krusevo, 102 Aromanians from Stip) were included in the study. A comparison of the obtained results with data from literature on other Balkan populations has been made. The results of the comparison of the studied alleles indicate relatively small genetic distances among the studied populations. The obtained dendrograms indicate a larger homogeneity in the large Balkan populations, and a manifest trend of separating the Aromanian population of the Stip region. A larger separation is characteristic in the Greek population of Thrace.

Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns.

The Balkan Peninsula is a complex cultural mosaic comprising populations speaking languages from several branches of the Indo-European family and Altaic, as well as culturally-defined minorities such as the Aromuns who speak a Romance language. The current cultural and linguistic landscape is a palimpsest in which different peoples have contributed their cultures in a historical succession. We have sought to find any evidence of genetic stratification related to those cultural layers by typing both mtDNA and Y chromosomes, in Albanians, Romanians, Macedonians, Greeks, and five Aromun populations. We have paid special attention to the Aromuns, and sought to test genetically various hypotheses on their origins. MtDNA and Y-chromosome haplogroup frequencies in the Balkans were found to be similar to those elsewhere in Europe. MtDNA sequences and Y-chromosome STR haplotypes revealed decreased variation in some Aromun populations. Variation within Aromun populations was the primary source of genetic differentiation. Y-chromosome haplotypes tended to be shared across Aromuns, but not across non-Aromun populations. These results point to a possible common origin of the Aromuns, with drift acting to differentiate the separate Aromun communities. The homogeneity of Balkan populations prevented testing for the origin of the Aromuns, although a significant Roman contribution can be ruled out.

Blood group and serum protein polymorphisms in a population group of Moldavians.

The distribution of the alleles and haplotypes for blood groups A1A2B0, MNSs, RHESUS, P1, KELL-CELLANO and biochemical markers of the alleles of loci AMY2, HPA, GC, C3, TF, BF, CP, PI (including subtypes) were studied in 125 Moldavian individuals from Karahasani settlement, Stefan-Voda District, Republic of Moldavia. The results show that the gene pool of Moldavians is similar to those of Southeastern European populations.

Haemogenetic studies in Bulgaria.

Within a study of the genetics of Bulgarian populations, the markers AB0, RH, MNS, P, HPA, GM(1), PGM1, ACP and ESD were examined in 2346 individuals from seven subpopulations of south-central and south-eastern Bulgaria. The combined data have been compared with other populations of the Balkans.

Dermatoglyphic studies in eastern and south-eastern Europe.

In nine population samples from Bulgaria, Croatia, Greece, Hungary, Republic of Macedonia (Skopje and Aromuns from Stip region), Romania, Serbia and Slovakia 12 dermatoglyphic variables have been studied. There are distinct differences between the populations and between males and females. The Macedonian Aromuns are clearly separated from the other populations.

Alu insertion polymorphisms in the Balkans and the origins of the Aromuns.

We have analysed 11 human-specific Alu insertion polymorphisms in the Balkans to elucidate the origins of the Aromuns, a linguistic isolate inhabiting scattered areas in the Balkan Peninsula. Four Aromun samples (two from the Republic of Macedonia, one from Albania, and one from Romania) and five neighbouring populations (Macedonians, Albanians, Romanians, Greeks, and Turks) were analysed by means of genetic distances, principal components and analyses of the molecular variance (AMOVA). Three hypotheses were tested: Aromuns are Romanophonic Greeks; the result of a Romanian southward migration; or local descendants of the Thracians. The analyses show that the Aromuns do not constitute a homogeneous group separated from the rest of the Balkan populations. Grouping by language or geography does not explain the genetic differences observed in the region, suggesting a lack of genetic structure in the area. Aromuns do not seem to be particularly related to Greeks, Romanians, or to other Romance speakers. The Aromuns might have their origin to the south of the Danube river, with extensive gene flow with the neighbouring populations. The present results suggest a common ancestry of all Balkan populations, including Aromuns, with a lack of correlation between genetic differentiation and language or ethnicity, stressing that no major migration barriers have existed in the making of the complex Balkan human puzzle.

Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.

Within a study of the genetics of Southeastern European populations seven serum protein polymorphisms (AMY2, BF, C3, CP, GC, HPA, TF) were examined in two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje). The neighbor joining tree as well as the principal component analysis show results which do not correspond well to the geographic and historic background. This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.

Allele frequencies of D21S11, FGA, TH01, and VWA in populations of the Balkans.

This study is part of an extensive investigation of the genetic relationship between Balkan populations, especially the Aromuns. Allele frequencies of four STRs (D21S11, FGA, TH01, VWA) from Macedonians (Skopje), Gramostian Aromuns from the Stip region (Macedonia), Moskopolian Aromuns from Krusevo (Macedonia), and Musequiar Aromuns from Dukasi (Albania) are presented.

[Rugen (Germany): hemogenetic study of an island population]. / Rügen (Deutschland): Hämogenetische Untersuchung einer Inselpopulation.

24 haemogenetic markers (5 erythrocyte antigens, 7 polymorphisms of serum proteins. 12 polymorphisms of red cell enzymes) had been studied in up to 171 individuals from the island of Rügen (Germany, Baltic Sea). The cluster analysis separates clearly the ügen sample just as the islands of Hiddensee and Ummanz from the neighbouring populations. The comparison of the data with neighboured larger populations as for instance Denmark, Hamburg or Sweden clearly results in an exceptional position of the island of Rügen. The possible reasons are discussed.

Blood group frequencies in Romania: microregional and ethnic differences.

This study is based on the results of the blood group typing (AB0, MN, RH: D/d) of two samples from Romania and on literature data. The 40 population samples used are scattered on the today's territory of Romania. Some data refer to more or less endogamous villages or groups of villages which belong to the same marriage area, some data refer to towns with admixed populations. Samples of nine ethnic minorities have been included in the study. The results have been discussed on the basis of the historical and geographical background.

Allele frequencies of alpha-1-antitrypsin (PI) in the Balkans.

The phenotype and allele frequencies of alpha-1-antitrypsin has been studied by an IEF technique (pH 4.2-4.9) in ten population samples from the Balkans. The allele frequencies varied from 0.6667 to 0.7361 (*M1), 0.1100 to 0.1793 (*M2), 0.0992 to 0.1700 (*M3), 0 to 0.0105 (*S), 0 to 0.0078 (*Z) and 0 to 0.0172 (others). The results were compared with data from South and Middle European populations from the literature. Most of the populations form a cluster with small genetic distances, and a weak relationship to geographical distributions. In contrast, the samples from Southern France, the Iberian Peninsula and Madeira form a clearly separated cluster. The differences are mainly based on high frequencies of PI*S in the latter populations.

Population genetic studies in the Balkans. I. Serum proteins.

Within a study of the genetics of Southeastern European populations seven serum protein polymorphisms (AMY2, BF, C3, CP, GC, HPA, TF) were examined in three samples of Aromuns (Albania: the village of Andon Poci, province Gjirocaster, Republic of Macedonia: Stip region, Romania: the village Kogalniceanu, province Dobruja) and four reference samples (Albanians: Tirana, Romanians: Constanta and Ploiesti as well as Greeks (Northeastern Greece)). The Aromun samples from Albania and Romania form one separate cluster and the reference samples together with the Aromuns from Macedonia (Stip region) form a second one.

Population genetic studies in the Balkans. II. DNA-STR-systems.

Within a study of the genetics of Southeastern European populations four DNA-STR-systems (D21S11, FGA, TH01, VWA) were examined in seven samples (samples of three Aromuns and four other Balkan populations). The results have been compared to data from four samples from literature (Austrians, Germans, Hungarians, Slovenians). The results show three clusters: a) the Aromuns from Albania (Andon Poci) and Macedonia (Stip region), b) the Romanian Aromuns (Kogalniceanu), Romanians (Constanta, Ploiesti) and Albanians (Tirana) und c) the data from literature. A sample of Northeastern Greece clearly differs from these three clusters. Including seven serum protein polymorphisms (without the populations from literature) results in two clusters: a) the three Aromun populations and b) Albanians and Romanians. Again the sample of Northeastern Greece clearly differs from these clusters.

[Variability of blood group frequencies in Romania]. / Untersuchungen über die Variabilität der Blutgruppenhäufigkeiten in Rumänien.

This paper presents the results of a study of two population samples from Dobruja and Muntenia (Romania) as well as data from the literature (AB0, MN, Rhesus (D/d) and HPA). The data have been pooled according to the different regions of Romania. Interestingly, the Carpathian Mountains do not form a genetical barrier: there are clear genetical similarities between the provinces east and west as well as between the provinces south and north from the mountains. The differences and similarities between Romania as a whole and other populations in this region reflect the historical processes of the last centuries.

[Genetic studies in the Cologne administrative district (North Rhine-Westphalia, Germany): DNA-STR systems FGA, TH01, VWA and YNZ22]. / Genetische Studien im Regierungsbezirk Köln (Nordrhein-Westfalen, Deutschland): DNA-STR-Systeme FGA, TH01, VWA und YNZ22.

The DNA-STR systems FGA, TH01, VWA, YNZ22 have been studied in two German population samples (Eschweiler, Stolberg and Hürtgenwald, Inden, Langerwehe, administrative area of Cologne, Northrhine-Westphalia). The cluster analysis, including data from Düsseldorf, Germany and from Poland, resulted in a cluster with Eschweiler, Stolberg and Düsseldorf, separating to a certain degree Hürtgenwald, Inden, Langerwehe and Poland more clearly. In contrary to the expectations (based on the history of the migration from Northeastern Europe to Northrhine-Westfalia) and the results of the study of 22 hemogenetic systems (Scheil & Huckenbeck 2000) there was a somewhat larger genetic distance between Eschweiler, Stolberg and Poland than between Hürtgenwald, Inden, Langerwehe and Poland. The combined data of the four STRs and the 22 hemogenetic systems resulted--as expected--in smaller genetic distances between Eschweiler, Stolberg and Poland as well as between Düsseldorf and Poland. These different genetic distances are interpreted as a result of the migration from North-East Europe to North Rhine-Westphalia in the last 130 years and the selective geographic distribution of the migrants in the industrial and urbanised areas.

[DNA PCR typing of non-human primates]. / DNA-PCR-Typisierung an nicht-menschlichen Primaten.

Human beings and non human primates show similarities in the non coding DNA range too, but up to now there are only a few data. This paper presents first results of a study dealing with a larger spectrum of species and individuals, considering the genetic marker HLA-DQA1, LDLR, GYPA, HBGG, D7S8, GC (partionally coding) and VWA, FES, F13B, TH01, CD4, FGA (not coding). The results show that not only the apes can be typed but also Macaca sylvanus as a member of the Cercopithecoidea. In contrast to earlier publications there is an unexpected larger similarity between the allele ranges of the apes studied and those of human beings.

[Helgoland (Germany): hemogenetic study of an island population]. / Helgoland (Deutschland): Hämogenetische Untersuchung einer Inselpopulation.

24 haemogenetic markers (5 erythrocyte antigenes, 6 polymorphisms of serum proteins, 12 polymorphisms of red cell enzymes) had been studied in up to 80 individuals from the island of Helgoland (Germany). The cluster analysis separates clearly the Helgoland sample from the neighbouring populations as well as from European standard data. This special position is interpreted partly by genetic peculiarities developed in the course of time, partly as a consequence of genetic drift.

[Hemogenetic studies of the Cologne political district (North Rhine-Westphalia, Germany)]. / Hämogenetische Studien im Regierungsbezirk Köln (Nordrhein-Westfalen, Deutschland).

In two population samples from the administrative area of Cologne, North Rhine-Westphalia, Germany (Eschweiler/Stolberg, B frequencies > 0.0800; Hürtgenwald/Inden/Langerwehe, B frequencies < 0.0800), 26 hemogenetic systems had been studied. The resulting differences of allele and haplotype frequencies, resp., are significant. These differences are interpreted as a result of the migration from North-East Europe to North Rhine-Westphalia in the last 120 years and the selective geographic distribution of the migrants in the industrial and urbanized areas.

DNA-PCR systems TH01 and VWA31: population data from Albania and Romania.

The microsatellite systems TH01 and VWA31 have been typed and analyzed for three populations from Albania (city population of Tirana, and Aromuns from a small-sized village, named Andon Poci, near Gjirokaster) and Romania (city population of Constanta). The genetic data have been compared with other, particularly South-Eastern European population.

How many markers or how many alleles per system are appropriate in zygosity testing?

Due to the development in DNA-PCR-technique more and more systems with a high number of alleles have been established in twin diagnosis. Because of their high effectiveness in resolving of genetic questions it is not amazing that some authors have postulated the thesis that typing of 5 to 10 DNA-PCR systems can prove monozygosity. For this paper the use of different systems (conventional and PCR systems) has been tested for twin diagnosis and the observed effects are discussed.