Red cell enzyme polymorphisms in Bulgaria

Summary 7 human red cell enzyme polymophisms have been typed on a sample of n=138 unrelated adults from Bulgaria, which revealed the following gene frequencies: ADA¹=0.8623. ADA²=0.1376; AK¹=0.9637, AK²=0.0362; 6-PGD^A=0.9891, 6-PGD^C=0.0108; PGM ₁ ¹ =0.8346, PGM ₁ ² =0.1653; P^A=0.1596, P^B=0.7983, P^C=0.0420. In the LDH-system one B-subunit variant was found, whilst no Peptidase A or B variant could be observed. The anthropological significance of these findings is discussed.

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Zusammenfassung An einer Stichprobe von n=138 nichtverwandten erwachsenen Bulgaren wurden 7 erythrocytäre Enzympolymorphismen untersucht. Dabei ergaben sich die folgenden Frequenzen: ADA¹=0,8623, ADA²=0,1376; AK¹=0,9637, AK²=0,0362; 6-PGD^A=0,9891, 6-PGD^C=0,0108; PGM ₁ ¹ =0,8346, PGM ₁ ² =0,1653; P^A=0,1596, P^B=0,7983, P^C=0,0420. Im LDH-System wurde eine B subunit-Variante gefunden, während keine Peptidase A- oder B-Variante beobachtet werden konnte. Die anthropologische Bedeutung dieser Befunde wird diskutiert.

     

Studies on the population genetics of the ceruloplasmin polymorphism

Summary Phenotype and gene frequencies of the ceruloplasmin polymorphism are reported. In all populations considered here (Germans, Icelanders, Iranians, Pakistani, and Koreans) high frequencies of the allele Cp^B (0.978–0.996) could be observed, whilst the frequencies of the alleles Cp^A (0.003–0.013) and Cp^C (0.000–0.013) are very low.

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Zusammenfassung Die Verfasser berichten über Phänotypen-und Gen-Frequenzen des Coeruloplasmin-Polymorphismus. In allen untersuchten Populationen (Deutsche, Isländer, Iraner, Pakistani und Koreaner) konnten sehr hohe Frequenzen des Allels Cp^B beobachtet werden (0,978–0,996), während die Frequenzen der Allele Cp^A (0,003–0,013) und Cp^C (0,000–0,013) deutlich geringer sind.

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Supported by the Deutsche Forschungsgemeinschaft.     

Zur Populationsgenetik der sauren Phosphatase der Erythrocyten (E C 3.1.3.2): Phänotypen-und Allelhäufigkeiten in Südwestdeutschland

Summary Within an population sample of 300 individuals of Southwestern Germany the red cell acid phosphatase polymorphism is investigated. Gene frequency estimates are: P^a=0.31, P^b=0.643, P^c=0.047.

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Direktor: Prof. Dr. med. Dr. H. Baitsch

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Untersuchungen zum Polymorphismus der sauren Erythrocytenphosphatasen (E C 3.1.3.2.)

Zusammenfassung Die Bestimmungstechnik der sauren Erythrocytenphosphatasen wird eingehend beschrieben. Untersuchungen zur Formalgenetik bei 80 Familien mit 118 Kindern sowie zur Populationsgenetik und Phylogenetik werden mitgeteilt. Die Ergebnisse widersprechen nicht dem formalen Modell 3 Allele Ph^A, Ph^B, Ph^C an einem autosomalen Locus.

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The method for determination of red cell acid phosphatases is described in detail.Investigations on formal genetics (80 families with 118 children), population genetics and phylogenetics are communicated. The results agree with the assumption: 3 alleles Ph^A, Ph^B, and Ph^C at one autosomal locus.

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Wesentliche Teile dieser Arbeit werden von Fräulein U. Callsen als Dissertation der Medizinischen Fakultät der Universität Freiburg i. Br. vorgelegt.     

Some notes on the geographical distribution of the human red cell acid phosphatase phenotypes

Summary Basing on the data of 65 populations the geographical variability of the human red cell acid phosphatase phenotypes resp. alleles was studied. We found a marked distribution gradient: The frequency of p^B-alleles increases with the increase of the mean annual temperature of the various biotops, whereas the p^A-allele frequencies show a clear decrease. For this allele we calculated a significant negative correlation between its frequency and the mean annual temperature: r=-0.71; P<0.001. We suppose that the p^B-allele is in some way adaptive under the climatic conditions of tropical biotops. The possible reasons are discussed.

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Zusammenfassung An Hand der Angaben von 65 Populationen wurde die geographische Variabilität in der Phänotypen- und Allelenverteilung der menschlichen sauren Erythrocytenphosphatasen untersucht. Dabei ergab sich ein deutlicher Verteilungsgradient insofern, als die p^B-Frequenz mit zunehmender mittlerer Jahrestemperatur zunimmt, während die p^A-Frequenz abnimmt. Für dieses Allel konnte eine signifikante negative Korrelation zwischen seiner Frequenz und der mittleren Jahrestemperatur ermittelt werden: r=-0,71; P<0.001. Wir vermuten, daß das p^B-Allel unter den klimatischen Bedingungen tropischer Biotope adaptiver ist. Die möglichen Ursachen hierfür werden diskutiert.

     

Zur formalen Genetik der 6-Phosphogluconatdehydrogenasen (EC: 1.1.1.44); Untersuchung von 220 Familien

Summary The 6-PGD-polymorphism has been investigated in a series of 220 families from Southwestern Germany comprising 546 children. The formal hypothesis two autosomal loci 6-PGD_A and 6-PGD_B, two alleles 6-PGD_B ^b and 6-PGD_B ^b1 at the locus 6-PGD_B covers the results.

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

On the population genetics of the ceruloplasmin polymorphism

Summary The frequencies of Cp-variants in 3 European, 1 Asiatic and 3 African populations are reported. The most striking fact is the high incidence of the Cp^A-allele not only in the African but also in 2 European samples.

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Zusammenfassung An 3 europäischen, 1 asiatischen und 3 afrikanischen Stichproben werden die populationsgenetischen Daten von Coeruloplasmin-Varianten erhoben. Der auffallendste Befund ist die erhöhte Cp^A-Frequenz nicht nur in den afrikanischen, sondern auch in 2 europäischen Stichproben.

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Supported by the Deutsche Forschungsgemeinschaft.     

Studies of the morphology of chromosomes of some selected species

Karyotypes of twelve species from twenty-four localities in southern Moravia and one locality in Slovakia were investigated. Their counts or karyotypic formulae are as follows:Chenopodium foliosum (Moench) Ascherson: K (2n)=18=16 A^m+2 B^sm;Astragalus austriacus Jacq.: K (2n)=16=8 A^m+8 B^sm;Astragalus exscapus L.: K (2n)=16=10 A^m+4 B^sm+2 C^st;Astragalus cicer L.: K (2n)=64;Astragalus onobrychis L.: K (2n=64 and K (2n)=64+1;Vicia dumetorum L.: K (2n=14=10 A^m+4 B^sm;Vicia sylvatica L.: K (2n)=14=2 A^m+10 B^sm+2 C^st;Vicia pisiformis L.: K (2n)=12=8 A^m+4 B^sm;Vicia cassubica L.: K (2n)=12=4 A^m+6 B^sm+2 C^st;Vicia cracca L. (from five localities in southern Moravia): K (2n)=28=4 A^m+12 B^sm+12 C^st and K (2n)=28+1=5 A^m+12 B^sm+12 C^st;Vicia cracca L. (from one locality in Slovakia): K (2n)=14=2 A^m+6 B^sm+6 C^st;Vicia tenuifolia Roth: K (2n)=24=4 A^m+16 B^sm+4 C^st;Serratula lycopifolia (Vill.) Kern.: K (2n)=60.     

Zur Populationsgenetik der Adenylatkinase: Genhäufigkeit in einer südwestdeutschen Stichprobe

Summary Adenylate kinase phenotypes were determined in 407 unrelated persons from Southwestern germany. The frequencies were estimated to be AK¹=0.969, AK²=0.031.

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Direktor: Prof. Dr. med. Dr. H. Baitsch

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Power of assaying inbreeding through sampling of phenotypes and mating types

Summary Several enzyme polymorphisms and hemoglobin variants were typed in a sample of n=219 non-related Greek blood-donors. The following gene frequencies were observed: p^a=0.201, p^b=0.701, p^c=0.098; PGD^A=0.985, PGD^c=0.015; AK¹=0.942, AK²=0.058; Hb^A=0.988, Hb^S=0.012. No polymorphic variation was seen in LDH, s-MDH, PHI, or SOD. The population genetical aspects of these results are discussed.

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Zusammenfassung An einer Stichprobe von n=219 erwachsenen griechischen Blutspendern wurden verschiedene Enzympolymorphismen und Hämoglobinvarianten untersucht. Folgende Genfrequenzen konnten beobachtet werden: p^a=0,201, p^b=0,701, p^c=0,098; PGD^A=0,985, PGD^c=0,015; AK¹=0,0942, AK²=0,058; Hb^A=0,988, Hb^S=0,012. Keine polymorphe Variation wurde bei LDH, s-MDH, PHI und SOD gefunden. Die populationsgenetischen Aspekte dieser Befunde werden diskutiert.

     

Cationic state distribution over the P700 chlorophyll pair in photosystem I

The primary electron donor P700 in photosystem I is composed of two chlorophylls, P_A and P_B. P700 forms the cationic [P_A/P_B]^•+ state as a result of light-induced electron transfer. We obtained a P_A^•+/P_B^•+ ratio of 28:72 and a spin distribution of 22:78 for the entire PSI protein-pigment complex. By considering the influence of the protein components on the redox potential for one-electron oxidation of P_A/P_B monomers, we found that the following three factors significantly contributed to a large P_B^•+ population relative to P_A^•+: 1), Thr-A743 forming a H-bond with P_A; 2), P_A as a chlorophyll a epimer; and 3), a conserved PsaA/PsaB pair, the Arg-A750/Ser-B734 residue. In addition, 4), the methyl-ester groups of the accessory chlorophylls A_−1A/A_−1B significantly stabilized the cationic [P_A/P_B]^•+ state and 5), the methyl-ester group orientations were completely different in A_−1A and A_−1B as seen in the crystal structure. When the methyl-ester group was rotated, the spin-density distribution over P_A/P_B ranged from 22:78 to 15:85.     

Genetisch kontrollierte Varianten der NADH-Diaphorase

Zusammenfassung Die NADH-Diaphorase wurde an 725 gesunden Probanden mit Hilfe der Stärkegelelektrophorese untersucht. Zwei verschiedene Varianten wurden beobachtet: eine heterozygot schnelle (DIA 2-1) und eine heterozygot langsame (DIA 3-1). Die Genhäufigkeiten sind: DIA²=0,0021; DIA³=0,0007.

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Genetically determined variants of NADH-diaphorase

Summary By means of starchgel-electrophoresis a screening for variants of NADH-Diaphorase was carried out within a sample of 725 healthy probands. Two kinds of genetically determined variants have been observed: a heterozygous phenotype with greater mobility (DIA 2-1) and a heterozygous phenotype with slower mobility (DIA 3-1). The gene-frequencies are estimated so far as 0.0021 (DIA²) and 0.0007 (DIA³).

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Analysis of sorbose resistance in Neurospora crassa in heterokaryons of sorbose resistant mutants; contribution to the genetics of active transport

Summary Suitable auxotrophic markers were introduced into sorbose-resistant mutants and the sorbose-sensitive wildtype strain. Pairwise combinations of one resistant and one sensitive strain each as well as of two sensitive strains were then grown on minimal-agar to obtain forced heterocaryons. The growth behaviour of these on minimal-agar with and without added sorbose was compared.Of seven resistant mutants, representing six separate genes, among which were genes A and B, six mutants were recessive to the wildtype. The seventh, representing gene C, was recessive only with regard to colony-size, but intermediate with regard to germination counts. Heterocaryons forced between pairs of 2 closely linked mutants (intragenic case of the type A^– ₁+A^– ₂) were resistant, as were the separate mutants. However two heterocaryons forced between pairs of unlinked mutants (intergenic case of the type A^–+B^–) were sorbose sensitive. Heterocaryons forced between A or B-mutants and the C-mutant mentioned, unlinked to either A or B (intergenic cases of the type A^–+C^– and B^–+C^–) were more sensitive than the separate mutants but more resistant than the wildtype.It follows that sorbose-resistant mutants in heterocaryons of the intergenic types can complement each others defects (no growth complementation), but can not do so in heterocaryons of the intragenic type. Their complementation is considered to be the result of the activity of the intact wildtype genes homologous to the defective ones that are contained together in the multinucleate cells of the heterocaryons. This complementation may be taken as evidence for the recessiveness resp. intermediate expression of the different resistant mutants.Since none of the mutants checked so far were dominant compared to the wildtype, none of them can be a regulator-mutant. The possibility of explaining them as suppressor mutants is restricted by their recessiveness to mechanisms of suppression giving a recessive phenotype. An alternative explanation suggests that the respective wildtype genes may contain structural information for the synthesis of permeases involved in sorbose transport. The mutants would then be resistant due to defective permeases. Their recessiveness is in full accord with this suggestion.

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II. Teil einer Habilitationsschrift bei der Naturwissenschaftlichen Fakultät der Universität München.     

Polymorphism of the red cell acid phosphatase in the Swiss population

Summary The distribution of the red cell acid phosphatase groups was studied on 1365 blood samples of Swiss individuals. The distribution is in agreement with the Hardy-Weinberg equilibrium. Gene frequencies similar to those observed in other Caucasian populations were obtained (P^A=0.345, P^B=0.607, P^C=0.049). In 331 mother/child-combinations, we found no theoretically impossible combinations.     

Zur Populationsgenetik der 6-Phosphogluconatdehydrogenasen (EC: 1.1.1.44): Genhäufigkeit in einer südwestdeutschen Stichprobe

Summary The 6-PGD phenotypes of 404 unrelated individuals from South-Western Germany were determined. The frequency of the 6-PG _B ^b1 allele is 0.031.

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Genetic polymorphism of glycerol-3-phosphate dehydrogenase (E.C.: 1.1.1.8)

Summary By means of starchgel electrophoresis several distinct proteins with G-3-PD activity can be detected in Primates. The relative activities of these isoenzymes are found to vary markedly from tissue to tissue. It is presumed that the G-3-PD proteins are dimers composed of two nonidentical polypeptide subunits (chain A and B), which are determined by two separate gene loci (G-3-PD _A and G-3-PD _B). In liver, kidney and skeletal muscle the subunit B is in great excess, while in heart and brain both subunits A and B are present in almost equal proportions. It is concluded, that the various isozyme patterns are the consequence of random combinations of different polypeptide chains. The results obtained so far indicate, that in Primates 2 alleles occur at the G-3-PD _A locus and 5 alleles at the G-3-PD _B locus. Formal notations are given, and a study on population genetics is reported.

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Zusammenfassung Bei den Primaten können mit der Stärkegelelektrophorese verschiedene G-3-PD-aktive Proteine nachgewiesen werden. Die transspezifische Variabilität ist beträchtlich. Für eine formalgenetische Interpretation ist das Modell zu unterlegen: zwie Cistrons G-3-PD _A und G-3-PD _B mit Information für G-3-PD-Polypeptidketten. Homozygote Individuen besitzen 3 Isoenzymbanden, da die beiden Polypeptidketten zu Dimermolekülen frei assoziieren. Heterozygote Individuen für das Cistron G-3-PD _A bzw. G-3-PD _B besitzen jeweils 6 Isoenzymbanden. Bei doppelt heterozygoten Individuen (sowohl für das Cistron G-3-PD _A als auch für G-3-PD _B) sind insgesamt 10 Isoenzymbanden zu erwarten. Unterschiede in den Syntheseraten für A- und B-Polypeptidketten bedingen eine stark ausgeprägte organspezifische Variabilität. In Leber, Niere und skeletmuskel überwiegt die Synthese für B-Ketten, im Herzmuskel und Gehirn werden A- und B-Ketten in annähernd gleicher Menge gebildet. Auf Grund der bisher vorliegenden Ergebnisse ist bei den Primaten mit 2 allelischen Varianten für das Cistron G-3-PD _A und mit 5 allelischen Varianten für das Cistron G-3-PD _B zu rechnen.

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(Director: Prof. Dr. Dr. H. Ritter)

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Supported by the Deutsche Forschungsgemeinschaft.     

Häufigkeit der Sichttypen in den Erbsystemen Haptoglobin,Gc, saure Erythrocytenphosphatase,Phosphoglucomutase und Adenylatkinase sowie den Erbeigenschaften Gm(1), Gm(2) und Inv(1) bei Deutschen (aus dem Raum Freiburg i. Br. und Köln) und bei Türken

Zusammenfassung Die an 274 Türken und einer mehrfachen Zahl Deutscher (787–5030) durchgeführten Untersuchungen ergaben eine etwas größere Häufigkeit des Gens Hp¹ im Raum Köln und eine größere des Gens Inv¹ im Raum Freiburg i. Br. Bei Türken sind die Allele Hp², Gm¹, P^b und PGM² häufiger, die Allele Hp¹, Gm^1,2, P_a, P_c und PGM¹ seltener als bei Deutschen. Die Frequenzen im Gc- und AK-System stimmen überein.

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Summary There was found a higher frequency of Hp¹ and a lower of Inv¹ in the population of Cologne than in the population of Freiburg. The frequencies of Hp², Gm¹, P^b and PGM² in the Turkish population were found to be higher than those in the German population; the frequencies of Hp¹, Gm^1,2, P^a, P^c and PGM¹ were found to be lower. In the systems Gc and AK the frequencies in the two populations are not significantly different.

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(Direktor: Prof. Dr. R. Haas)

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(Direktor: Prof. Dr. G. Pulverer)

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(Direktor: Prof. Dr. C. Bennholdt-Thomsen)     

Vergleichende untersuchung des peptonabbaus und der damit verknüpften ciliatenbesiedlung in strömenden und stagnierenden modellgewässern

Summary The decomposition of peptone and the associated species numbers and individual counts of ciliates has been investigated in flowing (current speed 40 cm/sec) and stagnant model ecosystems. In order to imitate the ecological conditions in natural waters receiving sewage small quantities of peptone were added at regular intervals.The most important environmental factors such as pH, dissolved oxygen, NH₄ ⁺-, NO₃ ^--levels, and the organisms occurring in the free water as well as in the periphyton community on microscopic slides, were investigated for three weeks. Both the population dynamics of organisms and the environmental conditions within the ecosystems are figured (Figs. 1–6).The ecosystem with flowing water, and the aerated stagnant model showed high contents of O₂ and fast mineralisation of peptone up to the NO₃ ^--level. The unaerated model showed a retarded decomposition of peptone and accumulation of ammonia.The unaerated stagnant ecosystem showed the highest individual counts of bacteria and ciliates, while in the flowing model a limited number of organisms only was found.Most of the differences between flowing and stagnant waters are due to the varying O₂-level. Only two species were directly inhibited by the current speed tested in these experiments.

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Zoologisches Institut der Universität Bonn Hydrobiologische Arbeitsgruppe (Leiter: Prof. Dr. H. Bick)

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Mit Untersützung der Weltgesundheitsorganisation.

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Herrn Prof. Dr. Rolf Danneel zum 70. Geburtstag gewidmet.

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Anschrift der Verfasser: PProf. Dr. H. Bick und Diol. Biol. W. Schmerenbeck, Hydrobiologische Arbeitsgruppe am Zoologischen Institut der Universität, D05300 Bonn 1, Poppelsdorfer Schlo\.     

Chromosome morphology of the czechoslovak species of the genusScorzonera

Karyotypic formulae of theScorzonera L. species are as follows:S. purpurea L.: K (2n)=14=8 A^m+6 B^sm and K (2n)=14+1=9 A^m+6 B^sm;S. austriaca Willd.: K (2n)=14=6 A^m+6 B^sm+2 C^st;S. humilis L.: K (2n)=14=12 A^m+2 B^sm;S. parviflora Jacq.: K (2n)=14=10 A^m+4 B^sm;S. hispanica L.: K (2n)=12 A^m+2 B^sm. The results of the study of the karyotypes of the generaScorzonera L.,Tragopogon L. andPodospermum DC. are summarized.     

Halplotypes of the ovine ADRB3 gene (ADRB3) and their association with post-weaning growth in New Zealand Suffolk sheep

The β₃-adrenergic receptor (ADRB3) regulates thermogenesis and lipolysis in brown and white adipose tissue. Previously, sixteen ovine ADRB3 haplotypes have been defined. In this study, the relationship between these ADRB3 haplotypes and variation in post-weaning growth was investigated in 797 New Zealand Suffolk lambs from 38 sire lines and eight studs, using PCR-SSCP and General Linear Mixed-effects Models. Seven haplotypes were found in these sheep and they comprised five previously reported intron sequences and four previously reported 3′UT sequences. The frequencies of the various diplotypes ranged from 0.1 to 17.6 % and individual haplotypes from 0.8 to 32.5 %. The presence of haplotype A-b was associated with a decreased weaning-weight (P = 0.001). Sheep with the B-c/F-e diplotype had a higher mean weaning-weight than those with A-b/B-c or A-b/E-e (P < 0.05). The presence of C-a was found to be associated with increased post-weaning growth (P = 0.008), while the presence of B-c was associated with decreased post-weaning growth (P = 0.005). Sheep with A-b/C-a had higher mean post-weaning growth than those with A-b/A-b, A-b/B-c, B-c/B-c, B-c/E-e or B-c/F-e (P < 0.05). Sheep with B-c/B-c had lower mean post-weaning growth than those with A-b/C-a or B-c/C-a (P < 0.05). Additive effects for the different forms of the B-c haplotypes on post-weaning growth were identified. The effects of the ovine ADRB3 haplotypes on weaning-weight and post-weaning growth confirm that they could be used as a candidate gene-marker for improving sheep growth.