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.

[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.

Is male-infant caretaking related to paternity and/or mating activities in wild Barbary macaques (Macaca sylvanus)?

In species with a promiscuous mating system, the functions of male-infant caretaking remain unclear in the absence of genetic paternity tests. We tested paternal investment and hypotheses concerning reproductive tactics in wild groups of Barbary macaques, including results of genetic paternity tests. Our study revealed that male-infant caretaking was not related to the probability of paternity. In principle, males could use access to females to estimate paternity. However, we found that mating success was not related to paternity, so males could invest in infants that they had not sired, and caretaking of non-offspring was actually observed. Accordingly, males might be 'deceived' with respect to their paternal investment. In that case, one would expect a positive relation between mating success and the subsequent rate of male caretaking of infants. Such a relation is also lacking, leading to comprehensive rejection of the paternal investment hypothesis in Barbary macaques. By contrast, there was evidence that males showing infant care achieved higher mating frequencies than other males with the mothers of the relevant infants. Thus, male Barbary macaques do not show a 'mate-then-care' pattern, but they do exhibit a 'care-then-mate' pattern.

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.

[Haptoglobin (HPA)-subtypes in Swiss populations]. / Haptoglobin (HPA)-Subtypen in schweizerischen Populationen.

A subtyping of the haptoglobins of thirteen small Swiss populations, who live in mountainous regions of the Alps, and four larger Swiss populations has been undertaken. The impact of population and sample size on allele frequencies is discussed.

[Genetic studies in Banat, Romania]. / Genetische Untersuchungen im Banat, Rumänien.

The genetic change in small populations which immigrated into Rumania have been considered with selected examples from three populations: Carasova, Lindenfeld and Sumita, all of which have settled down in the geographical area of Banat and have remained cultural isolates over hundreds of years in their new territory. The population of Carasova is of Serbo-Croatian origin (Kosovo and North-Albania) and immigrated into Rumania in the 14th century. The village of Lindenfeld was populated by groups of German descent who came from Bohemia after 1830. But, Sumita is inhabited by Czech groups of Bohemian origin which arrived in the Banat around the same period. The present paper compares these relatively small, cultural isolates with Cornereva, an area of an old Rumanian stock as well as with ethnohistorically or geographically related peoples. Allele frequencies of 7 genetic marker systems (AB0, MN, RH, P, KM, HPA, TF) were used for the calculation of the genetic similarity and distance between these Rumanian isolates and related peoples. High genetic similarity is encountered between Lindenfeld and Sumita which is, apparently, due to their common Bohemian origin. Both of these populations and that of Carasova show a relatively low genetic similarity with Cornereva, the former endemic Rumanian population. These genetic findings are in good accordance with the ethnohistory of the populations compared.

Parentage analysis within a semi-free-ranging group of Barbary macaques Macaca sylvanus.

This study of a group of semi-free-ranging Barbary macaques Macaca sylvanus aimed to determine paternity, to establish whether any individual male achieved prominent mating success and to assess genetic variability. Analyses involved electrophoresis of 15 blood protein systems and multilocus DNA fingerprinting (isotopic and nonisotopic). Genetic variability was low; only two blood protein systems were polymorphic. Although all DNA-fingerprints were individual-specific, they showed a high average band-sharing index value (0.67). Nevertheless, a combination of all methods permitted inference of paternity in 11 out of 15 (73%) cases tested. Several males from different age classes fathered infants.

Distal phocomelia of the forearm in a thirteenth-century skeleton from Poland.

The skeleton of a 35- to 40-year-old male (A.D. 1250 to 1300) with distal phocomelia (intercalary transverse) of the right forearm and severe (90-100 degrees) right-sided scoliosis is examined. Congenital malformation of the the right forearm resulted in absence of the radius and ulna, and attachment of the upper arm and hand to the trunk. Lesser abnormalities consist of a-hypoplastic right scapula and misshapened ribs and sternum. This rare deformity reflects the variability and antiquity of congenital malformations of the upper limb.

[Factor 13 B (FSF) polymorphism in the Swiss population, with reference to European frequency gradients]. / Der Faktor 13 B (FSF)-polymorphismus in schweizerischen Populationen, mit Betrachtungen über europäische Häufigkeitsgradienten.

Phenotype and allele frequencies of the coagulation factor 13 B (FSF B) of three Swiss populations (Northern Switzerland, upper Rhone valley and valley of Safien) have been determined after electrophoresis and passive immunoblotting and are discussed with respect to the geographical distribution and to the history of these populations. The populations of the upper Rhone valley and the valley of Safien reveal a closer genetical relationship obviously due to the migration of the antecedents of the recent Safier from the Rhone valley to the Safien valley from the 13th to 14th century. The allele frequencies of the Swiss German population fit rather well the North-South genetical cline which has to be considered in the light of the early settlement of Central Europe and of the numerous migrations thereafter.

[Migration of the Walser population]. / Die Migration der Walser.

Migrations in prehistoric and protohistoric man are responsible for the genetic similarity observable in recent populations. As a consequence of these early migrations, small groups were founded and the resultant genetic drift and isolation were often involved in the differentiation of some populations. The Walsers of the Grisons (Switzerland) present a good example of these inter-related population-genetic phenomena: migration was the major determinant of the relatedness of the gene pool in all Walser populations. This can be proven by allele frequencies, and most convincingly by electrophoretic variants which are only shared by closely related Walser groups. This statement demonstrates clearly the congruence of the genetics and well-documented population history of the Walsers. Incidentally, blood genetic and demographic data support the hypothesis that a genetical cline exists in the valley of Safien from south to north. This is in accordance with the historical data describing the peopling of the valley by Rheinwald Walsers in the 14th to the 16th century.

[Gene frequencies of the enzymes ALADH, GOT2, GPT, PGM3, SAHH and UMPK in a Swiss population]. / Genfrequenzen der Enzyme ALADH, GOT2, GPT, PGM3, SAHH and UMPK in einer schweizerischen Population.

The polymorphisms of the enzymes ALADH, GOT2, GPT, PGM3, SAHH, and UMPK have been studied in a population of Northern Switzerland (Zürich). The results are compared with those of other European populations.

[Gene frequency of ceruloplasmins in Swiss populations (North Swiss, Valais valley populations and Valais)]. / Genfrequenzen des Coeruloplasmins in schweizerischen Populationen (Nordschweizer, Walliser und Walser).

Coeruloplasmin has been studied on 3051 individuals from Swiss populations. The C*PA frequencies of 0.0050 reported for Northern Switzerland as well as for the Upper Rhone Valley (Brig, Goms) and the Visp Valleys (Valais) are in the range of those of other European populations. In the village of Törbel and in the Lötschental (both Canton of Valais) the C*PA frequencies are somewhat lower. The individuals from the French speaking part of Valais showed only the C*PB allele. The fixation of the C*PB allele in the Walser of the Safiental (The Grisons) can be explained under the assumption of founder effect or of genetic drift. A new CP variant (C*PW) is described.

Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16.

The genetic locus of human transcobalamin II (TC2) is not yet known. The mouse transcobalamin II gene has been assigned to mouse chromosome 11, linked to hemoglobin A. This fact suggested a similar linkage of transcobalamin II in man, assigning it thus to human chromosome 16. Our linkage investigation in a family material of more than 600 individuals demonstrated absence of linkage between transcobalamin II and phosphoglycolate phosphatase, which is very closely linked to hemoglobin A on chromosome 16. Additionally we confirmed absence of linkage with the chromosome 16 gene marker system haptoglobin. These two gene marker systems are located far from each other, and the total length of chromosome 16 is estimated only about 100 cM. Together with recent results of investigations in somatic mouse-man cell hybrids, we conclude that TC2 is not located on chromosome 16. Additionally we found absence of linkage between transcobalamin II and 6-phosphogluconate dehydrogenase, rhesus blood group (both on chromosome 1), GC (chromosome 4), Esterase D (chromosome 13) and AG; absence of close linkage with "debrisoquin polymorphism".

Unusual sialilation of three different rare genetic variants of serum DBP: Gc1A17, Gc1A16, and Gc1A11.

The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc variants. The results indicate that both proteins, the anodal and the cathodal component of these Gc1 mutants, carry sialic acid residues. This observation is remarkable in so far as usually only the anodal component of the Gc1 protein contains NANA and only a single residue. From the experiments carried out it can be deduced that Gc1A16 has two NANA residues in the anodal and one NANA residue in the cathodal component. Gc1A16 was found in four members of three generations in a Danish family; the variant segregated as a Mendelian trait. More difficult to interpret are the results obtained with the variants Gc1A11 and Gc1A17. Gc1A11 probably has three NANA residues in the anodal and two NANA residues in the cathodal component. Gc1A11 has been observed in two mother-child pairs and is presumably also a simple genetic trait. Gc1A17 has also several NANA residues in both Gc proteins; it is suggested that the anodal component has either three or four NANA residues and the cathodal component either two or three NANA residues. Family information on this variant is not yet available.

[Electrophoretic alpha 1-antitrypsin variation in the Swiss population]. / Die elektrophoretischen alpha 1-Antitrypsin-Varianten in der schweiazerischen Bevölkerung.

Two Swiss populations (population 1: Switzerland, n = 1041; population 2: population of the mountain village of Törbel, n = 273) have been phenotyped in the Pi-system (alpha 1-antitrypsin system) by isoelectrofocusing (pH 4-6 and 4-5, Ampholine plates). 20 Pi-phenotypes have been detected, which are genetically determined by at least 9 alleles. In population 1 (Switzerland) 17 Pi-phenotypes have been found, among them the relatively rare Pi-phenotypes Pi M1T, Pi M1F, Pi M1I, Pi M2S, Pi M2I, Pi M3M3, Pi M3F, Pi SS, Pi SF, Pi SZ and Pi ZZ. The detection of the PiT-allele and of the clinically relevant phenotype Pi ZZ in this population requires a special interest. The relatively isolated population 2 (Törbel) in the Swiss Alps seems to be characterized by a lower number of Pi-phenotypes and by an increased frequency of the PiE-allele compared to the whole Swiss population. Detailed data about the demography and the history of this population strengthen the hypothesis that in particular genetic drift (founder principle) and isolation are responsible for this significant distribution of the Pi-phenotypes.

[Transferrin findings in Callithrix jacchus Linné, 1758 (Primates, Platyrrhina)]. / Transferrin-Befunde bei Callithrix jacchus Linné, 1758 (Primates, Platyrrhina).

This paper deals with the transferrin (Tf) polymorphism in the South American marmoset Callithrix jacchus. The transferrin bands of this species are positioned in the electropherogramme cathodal to the beta1C-globulin (C 3), s. Fig. 1. By means of the combined agarose gel immuno-electrophoresis 7 distinguishable phenotypes have been detected in 166 animals (s. Fig. 2). The formal genetic analysis of 28 matings with 48 youngs (cf. Table 1) leads to the assumption that at least 4 codominant alleles (Tf Cja, Tf Cjb, Tf Cjc, Tf Cjd) are existent at the autosomal Tf-locus in Callithrix jacchus.

Spontaneously occurring agglutinins in primate sera.

Tests for spontaneously occurring agglutinins in the sera of nonhuman primates showed that such antibodies are not infrequent. Some act as heteroagglutinins, others as autoagglutinins, while of most interest are the isoagglutinins, especially those found in female animals apparently resulting from isoimmunization in pregnancy.