Study of red blood cell and serum enzymes in five Pyrenean communities and in a Basque population sample

Until recently, no data on genetic polymorphisms in the populations living on the northern side of the Pyrenees have been available, except for the Basques. Several investigations were done lately on rural communities in various geographic zones in the Pyrenees from the eastern to the western part. In this paper, the results for the following enzyme polymorphisms are reported: acid phosphatases, AK, ADA, PGM1 and PGM2, 6PGD, NADH diaphorase, SOD, MDH, TGP, G6PD, C5 esterase (E2 locus), serum cholinesterase (E1 locus). Significant variation in gene frequencies was observed over the distinct geographic zones for the main polymorphic system. Furthermore, some rare alleles were found: a new G6PD variant (Luz-Saint-Sauveur), the presence of ADA3 and ADA5 alleles in two groups of the Central Pyrenees, a Dia2 gene among Basques and in the Pays de Sault, a high rate of Ea1 allele in the Basque group. The values obtained for the degree of heterozygosity are in agreement with the relative isolation of the different groups studied and confirm the importance of sociocultural factors in the evolution of the genetic background of rural communities in Europe.     

The relationship of red cell enzymes to red cell life-span

Red cells are replaced before they become senescent. It is probable that red cell destruction is controlled by a biologic clock, essentially independent of metabolism, rather than by metabolic failure. The appearance of neo-antigens on the external surface of the red cell could be this "clock."     

Liver enzymes and blood metabolites in a population of free-ranging red deer (Cervus elaphus) naturally infected with Fascioloides magna

We investigated the effects of Fascioloides magna infection on the serum biochemistry values of the naturally infected red deer population in eastern Croatia. The investigation was performed on 47 red deer with F. magna infection confirmed patho-anatomically in 27 animals (57.4%). Fibrous capsules and migratory lesions were found in 14 deer while only fibrous capsules without migratory lesions were found in 13 deer. In 13 deer both immature and mature flukes were found, in 5 deer only immature flukes were found and in 9 deer only mature flukes were found. Fascioloides magna infected deer with fibrous capsules and migratory lesions had significantly higher values for lactate dehydrogenase (LDH), glutamate dehydrogenase (GLDH) and globulin, and lower values for albumin/globulin ratio and glucose compared to uninfected deer. Fascioloides magna infected deer with fibrous capsules without the presence of migratory lesions had higher values for alanine aminotransferase (ALT) and globulin, and lower values for albumin/globulin ratio and glucose, than the uninfected deer. The number of immature flukes was positively correlated with values of aspartate aminotransferase (AST), γ-glutamyltransferase (GGT), LDH, GLDH, urea and triglycerides. The number of migratory lesions was positively correlated with GGT, GLDH, globulin and urea values. The creatinine value was positively correlated with the number of mature flukes. The trial showed that F. magna infection causes significant changes in serum biochemistry. Moreover, these changes do not completely resemble changes following F. hepatica infection. Further investigation of changes in liver enzymes and other serum metabolites in controlled, experimentally induced fascioloidosis in red deer is needed to better understand the pathogenesis of F. magna.     

On the population genetics of the red cell glyoxalase I (GLO)

Summary The GLO phenotype distribution was studied in the population from the Rostock area (n=233). The gene frequencies of GLO alleles were estimated to be GLO¹=0.4249, GLO²=0.5751. The electrophoretic separation was achieved on horizontal starch gel.     

Polymorphism of red cell S-formylglutathione hydrolase in a Finnish population

Red cell hemolysates from a Finnish population sample (n = 242) were fractionated by isoelectric focusing on polyacrylamide gel, and S-formylglutathione hydrolase (EC 3.1.2.12) was located by activity staining. Polymorphism, which is probably genetically determined, was found. The samples from most persons studied gave one major enzyme band, whereas for 6 persons three enzyme bands were found. The enzyme is a dimer, and the polymorphism observed appears to result from two alleles, FGH1 and FGH2 at an autosomal locus. The frequency found for FGH1 was 0.988.     

Population study of electrophoretic polymorphisms of red cell enzymes and plasma proteins in Caucasian Canadians

Blood samples from a random series of Canadian Caucasians were phenotyped for 28 red cell enzyme systems and eight plasma protein systems. Polymorphism was found in 17 and rare variants in 11 of the systems. Allele frequencies are presented for these; distribution of phenotypes is in accordance with the Hardy--Weinberg equilibrium theory. In a complementary study of families there was no evidence of de novo mutation in any of the 36 systems and they allowed a minimum estimate of the frequency of null alleles in the ADA, C2, and GPT systems.     

Study of human red cell NADH diaphorase (Dia1) in the Italian population

A total of about 4,500 individuals from Northern, Central and Southern Italy have been analyzed for red cell NADH diaphorase. The results show that the Italians differ significantly (p less than 0.005) from the other examined populations of European origin by showing a higher frequency of the Dia2 allele (6.4%) and a lower frequency of other Dia variants (0.6%).     

Population genetics of red cell enzymes in Pygmies: a conclusive account

In the course of a long-term research project, three groups of Pygmies and some non-Pygmy Central Africans have been examined for the following red cell enzyme markers: ACP, PGM1, PGM2, PEPA, PEPB, and PEPC, AK, ADA, and PHI. Several other red cell enzymes (ESD, CA1 and CA2, GPT, GLO, and DIA1) have been studied in only some of these groups. This paper reports all the information we obtained, including what we have already published. The following conclusions can be drawn from the whole body of data: (1) Gene patterns of Pygmies are those typical of other Africans (e.g.: lack of ADA2 and AK2 genes, low GPT2 gene frequency, polymorphism of the CA2 locus, and presence at polymorphic frequencies of PEPA2 allele. (2) Superimposed on this African genetic makeup, a number of Pygmy characters were identified, namely, a private polymorphism for the PGM26 Pygmy allele and possibly one for the PEPC2 allele, and particularly high ACPR and low PGM12 gene frequencies. (3) Some markers, especially PGM1 and ACP, turned out also to discriminate efficiently among different groups of Pygmies.     

Blood groups, red cell enzymes, and cerumen types of the Ahousat (Nootka) Indians

A survey of the blood groups of a Nootka band produced frequencies characteristic of North American Indians for the ABO system (0.99 for 0, 0.0 for B, and 0.01 for A), Rhesus (0.822 for cDE, 0.011 for cde, 0.023 for cDe), Lutheran (1.00 for Lu(a—)), Duffy (0.505 for Fy(a+)) and Diego (0.039 for Di(a+)). K is not absent though the frequency is not great (0.028). Surprising results were obtained for the MN locus (0.399 for M, 0.601 for N), P (0.209 for P₁), and Lewis (0.568 for Le(a+)). A frequency of phosphoglucomutase type PGM₁¹ of 0.890 was found; all hemoglobins were type AA; no G-6-PD deficiency was found an all were type B positive; the frequency of the dry cerumen allele was found to be 0.323.     

Demographic trends in a captive population of red pandas (Ailurus fulgens)

Birth and survivorship data based upon 39 litters born over a ten-year period are examined and discussed. Reproduction in red pandas is characterized by seasonal breeding, small mean litter size, and relatively high survivorship of young, and in general follows a typical “K-selected” life-history strategy. The mean litter size was two, and the sex ratio at birth was approximately 1 male to 1.11 females. Higher male mortality in the early age classes resulted in a sex ratio in favor of females. Mortality was not correlated with age or experience of the mother but was found to be highly positively correlated with an increase in the inbreeding coefficient of the young. There was no significant difference in mortality among the different litter-size classes, and in general mortality decreased with age. Recommendations concerning future management for the study population are given.     

Geographic and ethnic distribution of some red cell enzymes

Summary In the literature widely scattered data on the gene frequency of the 4 polymorphic red cell enzyme systems adenosine deaminase (ADA), adenylate kinase (AK), phosphoglucomutase (PGM₁), acid phosphatase (AP) have been compiled. In addition the results of another German sample, taken from the population around Gießen, are given. Certain trends in the distribution are discussed.

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Zusammenfassung Die in der Literatur weit verstreuten Daten über die ethnische und geographische Verteilung der Allele in den 4 polymorphen Erythrocytensystemen Adenosindeaminase (ADA), Adenylatkinase (AK), Phosphoglucomutase (PGM₁), saure Phosphatase (AP) wurden gesammelt. Zusätzlich werden eigene Ergebnisse an einer Stichprobe aus Deutschland (Raum Gießen) mitgeteilt. Erkennbare Besonderheiten der Häufigkeitsverteilung werden diskutiert.

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Director: Prof. Dr. W. Fuhrmann

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Supported by the Alexander von Humboldt-Stiftung.     

Adaptation of red cell enzymes and intermediates in metabolic disorders.

The metabolic activity of the red cell glycolytic pathway hexose monophosphate shunt (HMP) with dependent glutathione system was studied in patients with hyperthyroidism (n = 10), hyperlipoproteinemia (n = 16), hypoglycemia (n = 25) and hyperglycemia (n = 23). In uncontrolled diabetics and patients with hyperthyroidism the mean value of glucose phosphate isomerase (GPI), glucose-6-phosphate dehydrogenase (G-6-PD), glutathione reductase (GR) was increased, whereas these enzyme activities were reduced in patients with hypoglycemia. Apart from a few values of hexokinase (HK) which were lower than normal the results in hyperlipoproteinemia patients remained essentially unchanged, including the intermediates such as 2,3-diphosphoglycerate (2,3-DPG), adenosine triphosphate (ATP) and reduced glutathione (GSH). While increased rates of 2,3-DPG and ATP in hypoglycemia patients were obtained, these substrates were markedly reduced in diabetics.     

Theoretical model and experimental study of red blood cell (RBC) deformation in microchannels

The motion and deformation of red blood cells (RBCs) flowing in a microchannel were studied using a theoretical model and a novel automated rheoscope. The theoretical model was developed to predict the cells deformation under shear as a function of the cells geometry and mechanical properties. Fluid dynamics and membrane mechanics are incorporated, calculating the traction and deformation in an iterative manner. The model was utilized to evaluate the effect of different biophysical parameters, such as: inner cell viscosity, membrane shear modulus and surface to volume ratio on deformation measurements. The experimental system enables the measurement of individual RBCs velocity and their deformation at defined planes within the microchannel. Good agreement was observed between the simulation results, the rheoscope measurements and published ektacytometry results. The theoretical model results imply that such deformability measuring techniques are weakly influenced by changes in the inner viscosity of the cell or the ambient fluid viscosity. However, these measurements are highly sensitive to RBC shear modulus. The shear modulus, estimated by the model and the rheoscope measurements, falls between the values obtained by micropipette aspiration and laser trapping. The study demonstrates the integration of a theoretical model with a microfabricated device in order to achieve a better understanding of RBC mechanics and their measurement using microfluidic shear assays. The system and the model have the potential of serving as quantitative clinical tools for diagnosing deformability disorders in RBCs.     

Fatty acids of plasma and red blood cell lipids in a normal population

A detailed study of the fatty acid composition of each of the lipids present in plasma and red blood cells of 62 healthy subjects of our area (Barcelona and surrounding counties), by coupling thin-layer and gas chromatography techniques has been made. The results are presented as normative data for comparison with those found in pathological situations. No significant sex differences were found. With increasing age, there was a tendency for the proportion of linoleic acid to decrease. Correlation analyses between the fatty acid composition of different lipids suggested that the interchange of fatty acids between plasma and cells mainly affects the phosphatidylcholine of the latter.     

Blood groups and red cell enzymes of the Ross River (Northern Tuchone), and Upper Liard (Slave) Indians

A survey of nine blood group systems was conducted as part of a study of health and nutrition among two Athapsakan groups of the Yukon Territory, Canada. Most of the samples were also analyzed for hemoglobin patterns and G-6-PD variants. The only significant difference in allelic frequencies between the two populations occurred at the P locus. An apparent deficit in the observed frequency of type A₁, and hence a departure from equilibrium, at Upper Laird could not be tested for significance due to insufficient degrees of freedom.