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 red cell adenosine deaminase polymorphism in Rome

Summary The red cell adenosine deaminase phenotype has been determined in 320 hemolysates from unrelated healthy individuals living in Rome. The gene frequencies were ADA¹=91.1 and ADA²=8.9.Supported by a grant of Consiglio Nazionale delle Ricerche (CNR)     

Adenosine deaminase polymorphism in sardinia

Summary Red blood cell adenosine deaminase and G-6-PD polymorphisms have been studied in the populations of 17 Sardinian villages located at various altitudes. A total of 1615 individuals of both sexes, with age between 7 and 14 years were examined.The negative relationship between Gd^Med gene frequency and altitude was confirmed.Adenosine deaminase polymorphism showed a considerable variability among the villages examined: ADA² frequency ranged from 0.025 to 0.106. The ADA² frequency was negatively related (p< 0.05) with Gd^Med gene frequency.

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Zusammenfassung Die Erythrocyten-Adenosin-Desaminase und Glucose-6-Phosphat-Dehydrogenase-Polymorphismen sind in Stichproben aus der Bevölkerung von 17 Dörfern auf Sardinien untersucht worden. Diese sind in verschiedener Höhe über dem Meer im zentralen Teil der Insel gelegen.Die negative Häufigkeitsbeziehung zwischen der Genfrequenz Gd^Med und der Höhenlage der Dörfer konnte bestätigt werden.Der Adenosin-Desaminase-Polymorphismus zeigt eine beträchtliche Variabilität zwischen den verschiedenen Dorfpopulationen. Die ADA²-Frequenz liegt zwischen 0,025 und 0,106. Die ADA²-Frequenz steht in negativer Beziehung (p< 0,05) zur Gd^Med-Frequenz.

     

Polymorphism of erythrocyte phosphoglucomutase,adenylate kinase and adenosine deaminase in northern Thailand

Summary Phenotypes of the erythrocyte enzymes phosphoglucomutase (PGM) (n-587), adenylate kinase (AK) (n=695), and adenosine deaminase (ADA) (n=616) were determined by horizontal starch gel electrophoresis in Thai subjects from norther Thailand, mainly from the provinces of Chiang Mai and Lamphun. The following gene frequencies were calculated: PGM ₁ ¹ 0.7385 PGM ₁ ² 0.2487 PGM ₁ ⁶ 0.0102 PGM ₁ ⁷ 0.0026, AK ¹ 0.9950 AK ² 0.0050, ADA ¹ 0.9180 ADA ² 0.0820.The regular, apparently autosomal transmission of the PGM ₁ ⁶ and PGM ₁ ⁷ alleles was demonstrated in 7 families revealing sufficient data.

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Zusammenfassung Die Phänotypen der Erythrocytenenzyme Phosphoglucomutase (PGM) (n=587), Adenylatkinase (AK) (n=695), and Adenosindeaminase (ADA) (n=616) wurden mittles horizontaler Stärkegelelektrophorese bei Thailändern aus Nordthailand, hauptsächlich aus den Provinzen Chiang Mai und Lamphun, bestimmt. Auf Grund der Ergebnisse wurden die in der englischen Zusammenfassung angegebenen Genfrequenzen berechnet. Die regelmäßige, anschinend autosomale Vererbung der Allele PGM ₁ ⁶ und PGM ₁ ⁷ wurde in 7 Familien mit ausreichenden Daten nachgewiesen.

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Established and supported by Stiftung Volkswagenwerk.     

Erythrocyte acid phosphatase (ACP1) activity

Summary Erythrocyte acid phosphatase (ACP₁) activity was determined in the absence of modulators and in the presence of either adenosine or inosine as modulators in 154 samples of red blood cells collected from adult donors. Adenosine and inosine showed modulating effects (activation), that were genotype dependent in the allele order p^bac; the activation by inosine was much higher than by adenosine. The modulating effect was dependent on adenosine deaminase (ADA) genotype: In carriers of ADA² allele the activation with ACP₁ phenotype A was lower and that with phenotypes CA and CB was higher than in ADA¹/ADA¹ subjects. In addition, the basic ACP₁ activity (i.e., without modulators) also appeared to be dependent on ADA genotype: The lowest ACP₁ activity was observed in A and BA subjects carrying the ADA² allele. Since the deamination of adenosine to inosine associated with ADA2-1 phenotype is slower than that associated with ADA1, the interaction of ADA on ACP₁ activity may in fact be explained by a lower intracellular concentration of inosine in ADA² carriers and, therefore, by a lower modulating effect of this on acid phosphatase activity.     

Adenosine deaminase,adenylate kinase and acid phosphatase polymorphism in a French-Canadian population

Summary Adenosine deaminase (ADA), adenylate kinase (AK1), and acid phosphatase (ACP1) red blood cell enzymes were studied for allelic variation in a French-Canadian population from Quebec City, Canada. Allele frequencies in 887 unrelated individuals were for ACP1, ACP1^*A: 0.305; ACP1^*B: 0.635 and ACP1^*C: 0.060, for ADA, ADA^*1: 0.969, ADA^*2: 0.031, and for AK1, AK1^*1: 0.976, AK1^*2: 0.024. The allele frequencies for each enzyme were identical to those previously reported in other Caucasian populations.     

Inhibition of CaMKII Does Not Attenuate Cardiac Hypertrophy in Mice with Dysfunctional Ryanodine Receptor

In cardiac muscle, the release of calcium ions from the sarcoplasmic reticulum through ryanodine receptor ion channels (RyR2s) leads to muscle contraction. RyR2 is negatively regulated by calmodulin (CaM) and by phosphorylation of Ca²⁺/CaM-dependent protein kinase II (CaMKII). Substitution of three amino acid residues in the CaM binding domain of RyR2 (RyR2-W3587A/L3591D/F3603A, RyR2^ADA) impairs inhibition of RyR2 by CaM and results in cardiac hypertrophy and early death of mice carrying the RyR2^ADA mutation. To test the cellular function of CaMKII in cardiac hypertrophy, mutant mice were crossed with mice expressing the CaMKII inhibitory AC3-I peptide or the control AC3-C peptide in the myocardium. Inhibition of CaMKII by AC3-I modestly reduced CaMKII-dependent phosphorylation of RyR2 at Ser-2815 and markedly reduced CaMKII-dependent phosphorylation of SERCA2a regulatory subunit phospholamban at Thr-17. However the average life span and heart-to-body weight ratio of Ryr2^ADA/ADA mice expressing the inhibitory peptide were not altered compared to control mice. In Ryr2^ADA/ADA homozygous mice, AC3-I did not alter cardiac morphology, enhance cardiac function, improve sarcoplasmic reticulum Ca²⁺ handling, or suppress the expression of genes implicated in cardiac remodeling. The results suggest that CaMKII was not required for the rapid development of cardiac hypertrophy in Ryr2^ADA/ADA mice.     

Polymorphismus der erythrocytären NADH-Diaphorase in der westdeutschen Bevölkerung

Zusammenfassung Bei 1008 unausgewählten nicht verwandten Deutschen aus dem Kölner Raum (564 Frauen und 444 Männer) wurden die Phänotypen der erythrocytären NADH-Diaphorase bestimmt. 991mal wurde der Typ Dia 1-1 nachgewiesen, 4mal Dia 2-1, 1mal Dia 2-2, 5mal Dia 4-1 und 7mal Dia 5-1. Für die westdeutsche Bevölkerung wurden folgende Genfrequenzen geschätzt: Dia ¹=0,9913, Dia ²=0,0025, Dia ⁴=0,0025 und Dia ⁵=0,0035.

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Polymorphism of red cell NADH-diaphorase in western German population

Summary Phenotypes of the red cell NADH-diaphorase were established amongst 1008 non related Germans from the Cologne area (564 females and 444 males). The following NADH-diaphorase types were identified: 991xDia 1-1, 4xDia 2-1, 1xDia 2-2, 5xDia 4-1 and 7xDia 5-1. Concerning the western German population the following gene frequencies were calculated: Dia¹=0.9913, Dia²=0.0025, Dia⁴=0.0025 and Dia⁵=0.0035.

     

Biochemical diversity and genetic distance in two species of the genusSaguinus

A comparative study of 20 blood genetic systems was performed on three populations of genusSaguinus: S. fuscicollis weddelli, S. midas niger, andS. midas midas. Some markers are useful for the characterization of the two species.ADA ⁵, ADA⁶, CA2³, CA2⁴, andES2 ² occur only inS. fuscicollis whileADA ⁴is fixed inS. midas. S. midas midas showed heterozygosity value comparable to those previously obtained for the genusAlouatta. Estimates of genetic distance betweenS. fuscicollis andS. midas species of about 14% are in accordance with those referred to in the literature for interspecific differences. Genetic distances between subspecies ofSaguinus midas were nearly 3%, which is within the range for subspecies.     

Esterase D-Polymorphismus: Darstellung in der hochspannungselektrophorese und mitteilung von allelhäufigkeiten

Zusammenfassung Esterase D-Isoenzyme wurden mit Hilfe der Hochspannungsstärkegel-elektrophorese getrennt. Das Es D-Protein hat eine dimere Struktur und wird von einem autosomalen Genlocus mit bislang 3 entdeckten Allelen kontrolliert. Die Allelhäufigkeiten bei einer 185 Personen umfassenden südwestdeutschen Population betrugen: Es D¹=0,8892, Es D²=0,1081, Es D³=0,0027.

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Esterase D-Polymorphism: Demonstration by high-voltage starch-gel electrophoresis and presentation of allele frequencies

Summary Esterase D (Es D) isoenzymes were separated by means of high-voltage starchgel electrophoresis. The protein has a dimeric structure and is controlled by a single autosomally inherited gene locus with so far 3 detected alleles. The allele frequencies in 185 unrelated individuals from South West Germany are: Es D¹=0.8892, Es D²=0.1081, Es D³=0.0027.

     

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.     

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.

     

Untersuchungen zum GPT-System unter besonderer Berücksichtigung des stummen Allels GPT0

Zusammenfassung Von 4208 nichtverwandten freiwilligen Blutspendern aus Hessen wurden die GPT-Phänotypen bestimmt und folgende Genfrequenzen errechnet: GPT¹=0,5228; GPT²=0,4737; GPT³=0,0035.Bei der Untersuchung von 108 Familien mit 159 Kindern ergab sich keine Abweichung von der Erbregel.Eine im Rahmen der Familienuntersuchungen zunächst als entgegengesetzte Homozygotie von Mutter und Kind imponierende Diskrepanz konnte durch den Nachweis eines stummen Gens (GPT⁰) abgeklärt werden.Die derzeit vorliegenden Ergebnisse über den GPT-Polymorphismus werden im Hinblick auf dessen Einführung in die forensische Vaterschaftsbegutachtung diskutiert.

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Studies on the GPT system, with special reference to the silent gene GPT⁰

Summary The GPT phenotypes were determined in 4208 non-related voluntary blood donors in Hessen. The following gene frequencies were calculated: GPT¹=0.5228; GPT²=0.4737; GPT³=0.0035.In a study of 108 families with 159 children no exceptions to the laws of inheritance were observed.In this family study one discrepancy, at first assumed to be a mother/child incompatibility (opposite homozygosity) proved to be due to a silent gene (amorph), GPT⁰.The results published on GPT polymorphism hitherto are discussed, with special reference to its implications for the assessment of paternity in forensic medicine.

     

Elektrolyttransport in Ehrlich-Aszitestumorzellen nach Röntgenbestrahlung

Zusammenfassung In der vorliegenden Arbeit wurde die Röntgenstrahleneinwirkung auf den Kaliumtransport bei Ehrlich-Aszitestumorzellen untersucht. Die Zellen wurden im dichtgepackten und anaeroben Zustand bestrahlt. Es waren Strahlendosen von einigen 100 krad erforderlich, um den Kaliumtransportmechanismus zu beeinträchtigen. Nach einer Strahlendosis von etwa 350 krad betrug der Kaliumgehalt nur noch 50% der Kontrolle. DerEfflux-koefnzientk _ex =0,04 min^–1 nahm um 50% zu, während derInfluxkoeffizientk _in =1,04 min^–1 nur um 20% abnahm. Nach Strahlendosen von mehr als 500 krad konnten die Zellen kein dynamisches Gleichgewicht mehr aufrechterhalten.

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The effect of x-rays on the electrolyt-transport in Ehrlich- Ascites tumor cellsIrradiation of tightly packed cells

Summary This paper deals with the radiosensitivity of the potassium transport in Ehrlich -Ascites tumor cells. During the irradiation the cells were packed tightly and kept under anaerobic conditions. To reduce the potassium content very large doses were required. After a dose of 350 krad the potassium content decreased to 50% of the control value. The efflux coefficientk _ex =0,04 min^–1 increased by about 50%, and the influx coefficientk _in =1,04 min^–1 decreased by about 20%. After doses higher than 500 krad the cells were unable to maintain a dynamic equilibrium.

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Herrn Professor Boris Rajewsky zum 75. Geburtstag gewidmet.

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Der vortiegenden Ver6ffentlichung wurde die Dissertation yon G.Itasl [10] zugrunde gelegt. Die experimentel]en Arbeiten wurden in den Jahren 1963 bis 1967 im Max-Planck-Institut für Biophysik in Frankfurt am Main unter seinem Direktor Prof. Dr. B.Rajewsky durohgefiihrt.     

Red cell enzyme polymorphisms in Punjabis in North India

Seven red cell isoenzyme systems were investigated on a sample of 140 Punjabis from Hoshiarpur and Chandigarh, shown to be representative by comparison of their blood group frequencies with other samples from the area. Phenotype and gene frequencies are given for adenosine deaminase, adenylate kinase, acid phosphatase, 6-phosphogluconate dehydrogenase, phosphoglucomutase locus 1 and 2, lactate dehydrogenase and phosphohexose isomerase. The high frequencies of the ADA² and AK² genes in Indian samples and the presence of the rare variant 3-1 of phosphohexose isomerase are confirmed.     

Differential inhibition of adenosine deaminase deficient peripheral blood lymphocytes and lymphoid line cells by deoxyadenosine and adenosine.

The response to mitogens of peripheral blood lymphocytes (PBL) from adenosine deaminase deficient (ADA^?) patients with Severe Combined Immunodeficiency (SCID), but not from normals, was more sensitive to inhibition by deoxyadenosine than by adenosine. In contrast, proliferation of long-term lymphoid line (B) cells from these patients was essentially equally inhibited by adenosine and deoxyadenosine. Deoxycytidine could “rescue” ADA^? PBLs from deoxyadenosine toxicity.     

AK,ADA and 6-PGD polymorphisms in Cosenza province (Calabria,Italy)

We report the allele frequencies of polymorphic red cells adenilatechinase (AK), adenosindeaminase (ADA) and 6-phosphogluconate dehydrogenase (6-PGD) enzymes in a population living in the province of Cosenza (Calabria, Southern Italy). AK^*1 (0.957), ADA^*1 (0.942) and 6-PGD^*A (0.965) frequencies are compared with samples obtained from other italian regions.     

Untersuchungen über das Transportsystem für Thiamin bei Bacillus cereus

Zusammenfassung Bei dem untersuchten Transportsystem für Thiamin bei Bacillus cereus wechseln rhythmisch 1–2 h andauernde Aufnahme-und Abgabephasen miteinander ab. Diese großen Phasen sind in kleinere von durchschnittlich 45 s Dauer unterteilt. Die Geschwindigkeit der Thiaminaufnahme wird von pH-Wert, Temperatur, Alter der Zellen, Energie-und Nährstoffversorgung sowie Thiaminkonzentration des Mediums beeinflußt. Sie folgt der Michaelis-Menten-Kinetik: K _m =1,98x10^-8 M; V _max=1,19x10^-6 mol/g TGxmin. Gefördert wird die Aufnahmerate durch K⁺, Ca²⁺ und Mg²⁺, gehemmt wird sie durch Pyrithiamin, EDTA, H⁺-Ionen, Wasserstoffacceptoren und-donatoren; OH^--Ionen bewirken eine Umkehr der Transportrichtung. Als erklärende Theorie wird eine Kopplung der Thiaminpermeation mit Protonenverschiebungen in der Membran diskutiert.

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Studies on the thiamine transport system in Bacillus cereus

The thiamine transport system in Bacillus cereus exhibits rhythmical changes of resorption-and excretion-phases lasting 1–2 h. These main phases are subdivided in shorter ones with an average duration of 45 s. The velocity of the thiamine uptake is influenced by pH, temperature, age of cells, energy and substrate supply and thiamine concentration of the medium. The Michaelis-Menten-Kinetic can be used to describe the uptake: K _m =1.98x10^-8 M; V _max=1.19x10^-6 mol/g dry weightxmin. The rate is enhanced by K⁺, Ca²⁺ and Mg²⁺, and inhibited by Pyrithiamin, EDTA, H⁺-ions, proton donors and proton acceptors; OH^--ions cause a change in the direction of transport. A theoretical explanation can be given by assuming a coupling of the thiamine permeation with proton movements in the membrane.

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Liste der Abkürzungen AMP Adenosinmonophosphat - ADP Adenosindiphosphat - ATP Adenosintriphosphat - DNP Dinitrophenol - EDTA Athylendiamintetraessigsäure - FAD Flavinadenindinucleotid - NAD Nicotinamidadenindinucleotid - NADP Nicotinamidadenindinucleotidphosphat - TPP Thiaminpyrophosphat     

Some red cell enzyme phenotype frequencies in Chinese

Summary Eight enzymes: phosphoglycerate kinase, soluble glutamic oxaloacetic transaminase, glutamic-pyruvic transaminase, isocitric dehydrogenase, adenosine deaminase, peptidase A, peptidase B, and indophenol oxidase were examined electrophoretically in red cells from 160 Taiwanese samples. Only GPT and ADA were found to exhibit polymorphism, the gene frequency for GPT¹ and ADA¹ being about 0.51 and 0.95 respectively. No S-GOT variation was identified in this particular population, although an atypical gene frequency of 0.02 was anticipated from prior surveys of Asiatic groups. These samples were collected in 1960 and preserved in glycerol indicating that meaningful results can be obtained on specimens stored for prolonged periods.

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Zusammenfassung Acht Enzyme wurden in roten Blutzellen von 160 Bewohnern von Taiwan bestimmt: Phosphoglycerat-Kinase; lösliche Glutamin-Oxalessigsäure-Transaminase (S-GOT); Glutamin-Brenztramidensäure-Transaminase (GPT); Isocitronensäure-Dehydrogenase; Adenosin-Deaminase (ADA); Peptidase A; Peptidase B; Indophenol-Oxidase. Nur GPT und ADA zeigten einen Polymorphismus; die Genhäufigkeiten für GPT¹ und ADA¹ lagen bei 0,51 bzw. 0,95. Bei dieser speziellen Bevölkerung wurde keine Variation der S-GOT festgestellt, obwohl eine Genhäufigkeit für das atypische Allel von 0,02 auf Grund früherer Untersuchungen bei asiatischen Bevölkerungen erwartet worden war. Die untersuchten Stichproben waren 1960 gesammelt worden und wurden seitdem in Glycerin aufbewahrt. Dies zeigt, daß vernünftige Ergebnisse auch mit Blutproben erarbeitet werden können, die für längere Zeit aufbewahrt wurden.

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Supported by Public Health Service grant AM 09745 and by grant GM 15253 from The National Institute of Health.     

Zum Polymorphismus der Glutamat-Pyruvat-Transaminase (GPT) menschlicher Erythrocyten in Westdeutschland

Zusammenfassung Die erythrocytären Isoenzyme der Glutamat-Pyruvat-Transaminase von 1148 zufällig ausgewählten Deutschen aus dem Kölner Raum wurden mittels horizontaler Stärkegelelektrophorese bestimmt. Bei 751 Proben waren die Banden nicht ablesbar, was auf Überalterung der Blutproben und den damit verbundenen Aktivitätsverlust der GPT zurückgeführt wird. Bei 397 Hämolysaten waren die Banden eindeutig ablesbar. Für Gpt ¹ wurde als Genfrequenz 0,5479, für Gpt ² 0,4521 ermittelt, seltene Varianten wurden nicht beobachtet.

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Polymorphism of human red cell glutamic-pyruvic-transaminase (GPT) in Western Germany

Summary Red cell glutamic-pyruvic-transaminase was established by horizontal starchgel-electrophoresis. 1148 Germans from the Cologne area were examined, but only in 397 cases the results were clearly interpretable. This fact was atributed to a decrease of GPT-activity in aged blood samples. No rare variants were detected. The following gene-frequencies were found: GPT¹=0.5479, GPT²=0.4521.