Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: 2.7.7.12)

Summary The genetic polymorphism of galactose-1-phosphate-uridyl transferases was investigated in a population sample in southwestern Germany. The frequency of the common allele Gt² was estimated to be 0.0723. Due to the electrophoretic pattern of homozygous and heterozygous phenotypes the enzyme is of dimeric structure consisting of two identical polypeptide chains.

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Zusammenfassung Der Polymorphismus der Galactose-1-Phosphat-Uridyl-Transferasen wurde in einer Bevölkerungsstichprobe aus Südwestdeutschland untersucht. Die Genfrequenz für das Allel Gt² beträgt 0,0723. Aus den Zymogrammen ergibt sich, daß das Enzyme Dimerstruktur besitzt.

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Supported by the Deutsche Forschungsgemeinschaft.     

Population genetics of the peoples of Iran I. Genetic polymorphisms of blood groups,serum proteins and red cell enzymes

Genetic polymorphisms of six blood groups and seven biochemical genetic markers were investigated in six Iranian populations (Turks, Kurds, Lurs, Zabolis, Baluchis and Zoroastrians). Eight of the genetic systems (ABO, MNSs, Kidd, C3, AP, AK, PGM1 and EsD) showed conclusive heterogeneity among these populations. Comparison of gene frequencies with the few available samples of Iranian populations demonstrated an intra-ethnic and extensive overall genetic diversity in the Iranian plateau. A gradient of C3*F gene was also discernible within the geographical region of Iran which may reflect the relics of the historical movements of different racial groups in this region. The present genetic variation may reflect the differences in the structure of these populations, the analysis of which is further attempted in the accompanying paper.     

Population genetics of red cell glyoxalase I (E.C.: 4.4.1.5)

Summary The polymorphism of Glyoxalase I was investigated in a population sample from Southwestern Germany. The frequency of the GLO² allele was determined to be 0.427.

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Zusammenfassung Der Polymorphismus der Glyoxalase I wurde an einer Bevölkerungsstichprobe aus Südwestdeutschland untersucht. Die Genhäufigkeit für GLO¹ beträgt 0,427.

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Supported by the Deutsche Forschungsgemeinschaft.     

Population genetics of red cell phosphoglucomutase (E C 2.7.5.1): Gene frequencies in Southwestern Germany

Summary In a population sample from Southwestern Germany PGM₁-phenotypes are determined. The gene frequencies fit well to those of Great Britain.Head: Prof. Dr. Dr. H. Baitsch Supported by the Deutsche Forschungsgemeinschaft.     

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.     

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."     

Population genetics of red cell and serum markers in the four Albanian communities of Molise, Italy

In this paper phenotype and gene frequencies of ten genetic markers (AK, AP, EsD, 6-PGD, PGM1, PGM2, Hb, Alb, Cp and Hp) of the four Albanian communities (Campomarino, Montecilfone, Portocannone and Ururi) living in Molise are reported. The gene frequencies show a high variability. The heterogeneity analysis among these villages could demonstrate significant differences between Campomarino and Montecilfone and between Campomarino and Ururi. It is interesting to note that the demographic analysis has shown the highest rate of immigration and the lowest percentages of endogamy, Albanian surnames and Albanian-speaking individuals in Campomarino. Against that Montecilfone and Ururi are showing opposite values for the same parameters. The genetic data are also indicating some differences between these Albanian communities and the Italian population. A comparison with the present population of Albany is not possible because of the lack of data.     

Population genetics of red cell glyoxalase I (E.C.:4.4.1.5): Gene frequencies in southwestern Germany.

The polymorphism of Glyoxalase I was investigated in a population sample from Southweatern Germany. The frequency of the GLO-2 allele was determined to be 0.427.     

Population structure of Staphylococcus aureus from remote African Babongo Pygmies

Background

Pandemic community-acquired methicillin-resistant Staphylococcus aureus isolates (CA-MRSA) predominantly encode the Panton-Valentine leukocidin (PVL), which can be associated with severe infections. Reports from non-indigenous Sub-Saharan African populations revealed a high prevalence of PVL-positive isolates. The objective of our study was to investigate the S. aureus carriage among a remote indigenous African population and to determine the molecular characteristics of the isolates, particularly those that were PVL-positive.

Methodology/Principal Findings

Nasal S. aureus carriage and risk factors of colonization were systematically assessed in remote Gabonese Babongo Pygmies. Susceptibility to antibiotics, possession of toxin-encoding genes (i.e., PVL, enterotoxins, and exfoliative toxins), S. aureus protein A (spa) types and multi-locus sequence types (MLST) were determined for each isolate. The carriage rate was 33%. No MRSA was detected, 61.8% of the isolates were susceptible to penicillin. Genes encoding PVL (55.9%), enterotoxin B (20.6%), exfoliative toxin D (11.7%) and the epidermal cell differentiation inhibitor B (11.7%) were highly prevalent. Thirteen spa types were detected and were associated with 10 STs predominated by ST15, ST30, ST72, ST80, and ST88.

Conclusions

The high prevalence of PVL-positive isolates among Babongo Pygmies demands our attention as PVL can be associated with necrotinzing infection and may increase the risk of severe infections in remote Pygmy populations. Many S. aureus isolates from Babongo Pygmies and pandemic CA-MRSA-clones have a common genetic background. Surveillance is needed to control the development of resistance to antibiotic drugs and to assess the impact of the high prevalence of PVL in indigenous populations.     

Population genetic studies of the Aka Pygmies (Central Africa)

Summary Blood samples collected in a single Pygmy tribe, the Aka, living in Bokoka district (Central African Empire) were investigated with respect to the phenotype and gene frequencies of the following 12 enzyme systems: acid phosphatase, adenosine deaminase, adenylate kinase, carbonic anhydrase, esterase D, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, superoxide dismutase and serum cholinesterase variants (locus E₁ and E₂). The data obtained in the study of genetic polymorphisms of this isolated and inbred population show a specific pattern with the following characteristics: the very low frequency of PGD^B and p^a alleles; the existence of two rare PGM variants at the PGM₂ locus, typical PGM ₂ ^6Pyg (4.2%) and PGM ₂ ⁹ (0.2%); the high frequency of the p^r allele (10.8%) and CA _II ² (8.22%) and ESD² genes (18.4%). Furthermore, at the G6PD locus four distinct alleles have been found: the negroid GDA-(4%) and GdA+(16%), the common GdB+(79.2%)-,and the rare Gd+^{Ibadan Austin} (0.7%). Cholinesterase typings disclosed the presence of the uncommon E ₁ ^f and E ₁ ^s genes distributed within a single breeding unit. The results are compared with other data previously reported on South African Khoisan and some Negroid populations; the particular genetic background of Pygmies is discussed.Otherwise known as Bi Aka     

Activity rhythms of enzymes in human red blood cell suspensions

Abstract

We have established the presence of a rhythm in the activity of 4 enzymes in in‐vitro cell suspensions of human red blood cells. Glucose 6‐phosphate dehydrogenase and glutamate oxaloacetate transaminase demonstrated semicircadian patterns of activity, while acid phosphatese and acetylcholine esterase exhibited circadian activity rhythms. The ratios between the highest to lowest activities varied from 2:1 to 10:1 among the various enzymes. The affinity of glucose 6 phosphate dehydrogenase to its substrate and coenzyme remained constant throughout the cycle. No evidence was obtained for the presence of a soluble inhibitor at the lower levels of the activity. Sonication of hemolysates with low glucose 6 phosphate dehydrogense activity yielded additional activity comparable to that of the peak activity. Sonication of hemolysates from the time of the peak activity did not change the original activity. The observations point to a role of the cell membrane in the biological clock.     

Antioxidant defense enzymes in cell vacuoles of red beet roots

The vacuolar fraction isolated from red beet (Beta vulgaris L.) taproots was shown to contain the cyanide-sensitive Cu,Zn-activated superoxide dismutase (SOD; EC 1.15.1.1). The enzyme was represented by three isoforms located in the aqueous phase (in the vacuolar sap) without association to the membrane. Effective operation of SOD in plant cells, especially of its H₂O₂-sensitive molecular forms, is known to depend on peroxide-utilizing enzymes; this study revealed the existence of phenol-dependent peroxidase (EC 1.11.1.7) in the plant vacuoles. It was shown that the vacuolar peroxidase of red beet roots has a high affinity to benzidines and exhibits optimal activity at low pH (pH range 4–6 depending on substrate species). This peroxidase was represented by numerous molecular forms of acidic and basic nature. The isoenzyme composition of peroxidase in storage roots was highly labile: it depended on the duration of dormant period and comprised from 10 to 17 isoforms. The peroxidase isoforms were located both in the aqueous phase (vacuolar sap) and in the membrane, being weakly associated with the tonoplast. The presence of SOD and peroxidase in the vacuolar sap indicates the existence in vacuoles of an antioxidant defense system that protects vacuolar molecular structures against the impact of superoxide radicals and excessive amounts of H₂O₂.