Red cell enzyme polymorphisms in the greek populations.

The frequency of variant forms of 6 red cell enzymes, adenylate kinase, adenosine deaminase, phosphoglucomutase, acid phosphatase, 6-phosphogluconate dehydrogenase and glutathione reductase, were determined in 9 Greek populations. The frequencies of the variants in these populations were similar to those previously reported in most other European populations. However, several differences, particularly in the 6-phosphogluconate dehydrogenase, phosphoglucomutase and acid phosphatase alleles, were found in a comparison of Greeks and Bulgarians, in accordance with their separate ethnic origins. The Macedonians resembled the other Greeks and differed from the Bulgarians.     

The regulation of hexokinase and phosphoglucomutase activity in Aspergillus nidulans.

Summary The levels of glucose-6-phosphate and 6-phosphogluconate dehydrogenase in wildtype cells of Aspergillus nidulans varied with the carbon and nitrogen source. In general, hexokinase activity did not vary with carbon or nitrogen source. The ammonium derepressed mutant amrA1 had only 50% of the wildtype level of hexokinase. Phosphoglucomutase activity was low in wildtype cells grown with nitrate, but high in cells grown with ammonium when glucose was the carbon source. A non-inducible mutant, nirA ^-1, in the regulatory gene for nitrate reductase, had high phosphoglucomutase activity when grown with nitrate or ammonium. A constitutive mutant nirA ^c1, in the regulatory gene for nitrate reductase had low phosphoglucomutase activity when grown with nitrate or ammonium. The mutants nir ^-1 and nirA ^c1 are recessive and semi-dominant respectively for abnormal phosphoglucomutase activity.     

Red cell isozymes in the Eastern Carolines

Four populations of islanders (Ponapeans, Mokilese, Pingelapese, and Kusaieans) in the Eastern Caroline Islands have been surveyed for variability in red cell acid phosphatase, phosphoglucomutase, 6-phosphogluconate dehydrogenase, adenylate kinase and glucose-6-phosphate dehydrogenase. The following gene frequencies were observed: P^a = 0.0904, PGM²₁ = 0.1015, and PGD^B = 0.0259. No genetic variation was encountered in the AK and G6PD systems.     

Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study

Summary A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD ⁰ allele.Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.Abbreviations used in this paper G6PD glucose-6-phosphate dehydrogenase - GSSGR glutathione reductase - PK pyruvate kinase - GSH glutathione - PGM phosphoglucomutase     

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.     

Blood genetic markers in Bengali Muslims of Bangladesh

Serum protein (albumin, haptoglobin, ceruloplasmin, transferrin and group-specific component), haemoglobin, and red cell enzyme (glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, acid phosphatase, esterase D, adenylate kinase, glyoxalase I, phosphoglucomutase, lactate dehydrogenase, malate dehydrogenase, phosphohexose isomerase and superoxide dismutase) polymorphisms were studied among the Bengali Muslims of Bangladesh. In general, the gene frequencies of the polymorphic systems were similar to those in West Bengal and Assam. There appears to be a relatively strong Mongoloid influence in the present population as evidenced by the presence of HbE and TfDChi, higher frequencies of Hp1 and GcIF, and a lower AK2 frequency.     

Blood genetic markers in the Chinese of two eastern provinces

A total of 205 Han Chinese from two eastern provinces (155 from Fujien and 50 from Hopeh) were tested for the distribution of six blood groups--A1A2BO, MN, Rhesus (CcDEe), Lewisa, Kell (Kk) and Fya--four serum proteins--albumin and haptoglobin types; transferrin and group-specific component subtypes--haemoglobin, and twelve red cell enzyme systems--glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, lactate and malate dehydrogenases; acid phosphatase, esterate-D, glyoxalase I, adenylate kinase, glucose-phosphate isomerase, phosphoglucomutase (locus 2), and superoxide dismutase types; and phosphoglucomutase (locus 1) subtypes. The frequencies of blood groups were more or less within the reported frequencies in the Chinese. However the frequency of le was much lower in the present series. The Chinese are characterized by low p1, Ro, k, le, and a high Fya in general. P2 was lacking in the Chinese. There were some differences in the blood group frequencies in the two provinces. The frequencies of Hp alleles; Tf and Gc subtypes show characteristic mongoloid features with high Hp1, TfD, and GcIF. The frequency of TFC2 was higher in the Fujien province than that in Hopeh. At the hemoglobin locus only one Hb AD was detected, while the frequency of the beta-thalassemia trait was 0.03. No red cell G6PD deficiency or variant was detected. The distribution of red cell enzymes showed Mongoloid characteristics with low PGDC, AK2, ESD1, GLO1, and higher pa. PGM1 subtypes also had Mongoloid characteristics with lower PGM2+ and higher PGM2-. The phenotypic distribution of all the fifteen polymorphic loci was at Hardy-Weinberg equilibrium in both the Chinese populations.     

Genetic studies on free-ranging macaques of Cay Santiago. II. 6-phosphogluconate dehydrogenase and NADH-methemoglobin reductase (NADH-diaphorase).

For the population of 395 semi-free-ranging rhesus macaques (Macaca mulatta) that inhabited Cayo Santiago in 1976, 6-phosphogluconate dehydrogenase phenotypes of 378 animals were determined. Three phenotypes, controlled by two autosomal codominant alleles,PGD^A andPGD^B, were found by electrophoretic methods. The frequencies of the alleles are 0.898 and 0.102, respectively. The population, composed of five troops and peripheral males, is in Hardy-Weinberg equilibrium at this locus. The allele frequencies at the 6-phosphogluconate dehydrogenase locus in the population in 1976 were compared with frequencies in 1973; a statistically significant difference was found in one troop. The phenotypes of NADH-methemoglobin reductase (NADH-diaphorase) were determined electrophoretically for 372 animals. These phenotypes are probably the products of two autosomal codominant alleles,Dia¹ andDia², with frequencies of 0.786 and 0.214, respectively. The population is in equilibrium at this locus also. Tests of homogeneity at the dehydrogenase and reductase loci indicate that the allele frequencies are significantly different among the five troops in the population. Observed and expected phenotypic ratios in progeny were compared at the dehydrogenase and the reductase loci. The only significant deviation from expectation occurs among offspring of mothers heterozygous at the reductase locus. The observed distributions of alleles at the 6-phosphogluconate dehydrogenase locus and the NADH-methemoglobin reductase locus are probably the results of stochastic processes.     

X-Linked Leigh's syndrome

Summary Three subpopulations of the Hadza were examined for the following antigens and proteins including enzymes A₁ABH, MNS Henshaw, C c C^W D D^u E e V Ce, Lu^a, KJs^a, Fy¹ Fy², Jk^a Jk^b, Di^a, Wr^a, haemoglobin, haptoglobin, transferrin, acid phosphatase, glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, phosphoglucomutase, adenylate kinase, lactate dehydrogenase, and malate dehydrogenase. The results are discussed in relation to other African populations including the Sandawe, Nyaturu, Pygmies, San, and Khoikhoi.     

Some hereditary blood factors of the Bengali Muslim of Bangladesh (red cell enzymes, haemoglobins, and serum proteins).

In a sample of Bengali Muslems from Dacca, haptoglobin, group-specific component, haemoglobin, adenosine deaminase, adenylate kinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase, acid phosphatase and several other red cell enzyme types were studied. For most serum protein and red cell enzyme systems the gene frequencies are similar to those in other populations to the west of Bangladesh, but others suggest affinity with populations to the east.     

Nitrite reduction in barley-root plastids: Dependence on NADPH coupled with glucose-6-phosphate and 6-phosphogluconate dehydrogenases,and possible involvement of an electron carrier and a diaphorase

Plastids from roots of barley (Hordeum vulgare L.) seedlings were isolated by discontinuous Percoll-gradient centrifugation. Coinciding with the peak of nitrite reductase (NiR; EC 1.7.7.1, a marker enzyme for plastids) in the gradients was a peak of a glucose-6-phosphate (Glc6P) and NADP⁺-linked nitrite-reductase system. High activities of phosphohexose isomerase (EC 5.3.1.9) and phosphoglucomutase (EC 2.7.5.1) as well as glucose-6-phosphate dehydrogenase (Glc6PDH; EC 1.1.1.49) and 6-phosphogluconate dehydrogenase (6PGDH; EC 1.1.1.44) were also present in the isolated plastids. Thus, the plastids contained an overall electron-transport system from NADPH coupled with Glc6PDH and 6PGDH to nitrite, from which ammonium is formed stoichiometrically. However, NADPH alone did not serve as an electron donor for nitrite reduction, although NADPH with Glc6P added was effective. Benzyl and methyl viologens were enzymatically reduced by plastid extract in the presence of Glc6P+ NADP⁺. When the plastids were incubated with dithionite, nitrite reduction took place, and ammonium was formed stoichiometrically. The results indicate that both an electron carrier and a diaphorase having ferredoxin-NADP⁺ reductase activity are involved in the electron-transport system of root plastids from NADPH, coupled with Glc6PDH and 6PGDH, to nitrite.Abbreviations Cyt cytochrome - Glc6P glucose-6-phosphate - Glc6PDH glucose-6-phosphate dehydrogenase - MVH reduced methyl viologen - NiR nitrite reductase - 6PG 6-phosphogluconate - 6PGDH 6-phosphogluconate dehydrogenase     

Pathway of propionate formation in Desulfobulbus propionicus

Whole cells of Desulfobulbus propionicus fermented [1-¹³C]ethanol to [2-¹³C] and [3-¹³C]propionate and [1-¹³C]-acetate, which indicates the involvement of a randomizing pathway in the formation of propionate. Cell-free extracts prepared from cells grown on lactate (without sulfate) contained high activities of methylmalonyl-CoA: pyruvate transacetylase, acetase kinase and reasonably high activities of NAD(P)-independent L(+)-lactate dehydrogenase NAD(P)-independent pyruvate dehydrogenase, phosphotransacetylase, acetate kinase and reasonably high activity of NAD(P)-independent L(+)-lactate dehydrogenase, fumarate reductase and succinate dehydrogenase. Cell-free extracts catalyzed the conversion of succinate to propionate in the presence of pyruvate, CoA and ATP and the oxaloacetate-dependent conversion of propionate to succinate. After growth on lactate or propionate in the presence of sulfate similar enzyme levels were found except for fumarate reductase which was considerably lower. Fermentative growth on lactate led to higher cytochrome b contents than growth with sulfate as electron acceptor.The labeling studies and the enzyme measurements demonstrate that in Desulfobulbus propionate is formed via a succinate pathway involving a transcarboxylase like in Propionibacterium. The same pathway may be used for the degradation of propionate to acetate in the presence of sulfate.Abbreviations DCPIP 2,6-dichlorophenolindophenol - PEP phosphoenolpyruvate     

Turbellaria Phagocata sibirica: Some Enzymes of Carbohydrate and Energy Metabolisms

Activities and properties of some enzymes of carbohydrate and energy metabolisms in free-living turbellaria Phagocata sibirica are studied. The enzymes are studied in various subcellular fractions. A high activity of hexokinase is accompanied by high activity of glucose-6-phosphate dehydrogenase (G6PDG). The level of pyruvate kinase activity is sufficient to provide dissimilation of phosphoenolpyruvate with formation of pyruvate. P. sibirica has highly-active lactate dehydrogenase (LDH) and malate dehydrogenase (MDH); a predominance of MDH activity over LDH and a low activity of phosphoenolpyruvate carboxykinase is revealed. NADP-dependent isocitrate dehydrogenase is found, which is activated by Mn²⁺ and Mg²⁺ and inhibited by salts of heavy metals and p-chloromercuribenzoate. Activities and properties of -ketoglutarate dehydrogenase, succinate dehydrogenase (SDH), and fumarate reductase are studied, and it is concluded that in P. sibirica there is the system of succinate oxidation, whereas the system of fumarate reduction into succinate is absent. Mitochondrial and microsomal fractions from P. sibirica had Mg²⁺- and Ca²⁺-dependent adenosine triphosphatases.     

Changes in rodent-erythrocyte methemoglobin reductase system produced by two malaria parasites, viz. Plasmodium yoelii nigeriensis and Plasmodium berghei

The methemoglobin reductase system plays a vital role in maintaining the equilibrium between hemoglobin and methemoglobin in blood. Exposure of red blood cells to oxidative stress (pathological/physiological) may cause impairment to this equilibrium. We studied the status of erythrocytic methemoglobin and the related reductase system during Plasmodium yoelii nigeriensis infection in mice and P. berghei infection in mastomys. Malaria infection was induced by intraperitoneal inoculation with 10⁶ infected erythrocytes. The present investigation revealed a significant decrease in the activity of methemoglobin reductase, with a concomitant rise in methemoglobin content during P. yoelii nigeriensis infection in mice erythrocytes. This was accompanied with a significant increase in reduced glutathione and ascorbate levels. The activity of lactate dehydrogenase, glucose 6-phosphate dehydrogenase and glutathione reductase increased with a progressive rise in parasitemia. However, no methemoglobin or associated reductase activity was detected in normal and P. berghei-infected mastomys. P. berghei infection in mastomys resulted in an increase in the level of reduced glutathione and ascorbate in erythrocytes, and also in the activity of lactate dehydrogenase, glucose 6-phosphate dehydrogenase and glutathione reductase. These results suggest that antioxidants/antioxidant enzymes may prevent or reduce the formation of methemoglobin in the host and thereby protect the host from methemoglobinemia.     

Genetic polymorphisms in the Kuwaiti Arabs

Blood samples were collected from 162 Kuwaiti Arabs. These samples were typed for the ABO, MNSs, Rh, Kell and Duffy blood group systems, serum protein haptoglobins, the red cell isoenzymes acid phosphatase, phosphoglucomutase (locus 1), adenylate kinase, 6-phosphogluconate dehydrogenase, and the lactate and malate dehydrogenase variants. Comparisons were made with serological findings for other Arab populations in the Arabian peninsula.     

Red cell glutamic-pyruvic transaminase gene frequencies in the region of the Po delta (Ferrara,Northern Italy)

Summary The red cell glutamic-pyruvic transaminase phenotype has been determined in 294 individuals from the region of the Po delta (Ferrara, Northern Italy). No correlation with past malarial morbidity has been detected. The gene frequencies found in this survey are similar to those reported for other Caucasian populations. One GPT ³ GPT ¹ individual has been found.Supported by a grant of the Consiglio Nazionale delle Ricerche (CNR).     

Genetic studies of the Macushi and Wapishana Indians

Summary Blood samples from 509 Macushi and 623 Wapishana Amerindians of Northern Brazil and Southern Guyana have been analyzed with reference to the occurrence of rare variants and genetic polymorphisms of the following 25 systems: (i) Erythrocyte enzymes: acid phosphatase-1, adenosine deaminase, adenylate kinase-k, carbonic anhydrase-1, carbonic anhydrase-2, esterase A_1,2,3, esterase D, galactose-1-phosphate uridyltransferase, isocitrate dehydrogenase, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, peptidase A, peptidase B, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, phosphohexoseisomerase, triosephosphate isomerase and (ii) Serum proteins: albumin, ceruloplasmin, haptoglobin, hemoglobin A, hemoglobin A₂ and transferrin. Fifteen different rare variants were detected, involving 11 of these systems. In addition, a previously undescribed variant of ESA_1,2,3 which achieves polymorphic proportions in both these tribes is described. Excluding this variant, the frequency of rare variants is 1.1/1000 in 12510 determinations in the Macushi and 4.7/1000 in 15 396 determinations in the Wapishana. The ESA_1,2,3, polymorphism was not observed in 382 Makiritare, 232 Yanomama, 146 Piaroa, 404 Cayapo, 190 Kraho and 112 Moro. Irregularities in the intratribal distribution of this polymorphism in the Macushi and Wapishana render a decision as to the tribe of origin impossible at present. Gene frequencies are also given for previosly described polymorphisms of 5 systems: haptoglobin, phosphoglucomutase 1, erythrocyte acid phosphatase, esterase D, and galactose-1-phosphate-uridyl-transferase.Research supported by the National Science Foundation and the Energy Research and Development Administration.     

Duplications and deletions of the human IGHC locus: evolutionary implications

 A limited number of deletions and duplications within the human immunoglobulin heavy chain constant locus (IGHC) has previously been reported. We studied the IGHC locus in about 500 individuals representing three major races of human, Negroid (Gambian), Mongoloid (Japanese and Chinese), and Caucasoid (Iranian and Swedish). The haplotype frequency of duplications is highest in the Mongoloid population (22%), followed by the Caucasian (10%) and Negroid (5%) populations. The corresponding frequency of deletions are 2, 1.5, and 3.5%, respectively. New types of multiple duplications were found in this study on different genetic (H haplotype and racial) backgrounds. The most common duplication, found in all populations studied, encompasses the IGHA1-IGHE genes. The only deletion common to all racial groups is an isolated deletion of the IGHG4 gene. Our data are consistent with the hypothesis that the Caucasoid-Mongoloid group diverged from the hominoid ancestor after development of the Negroid populations, with subsequent evolution within the respective groups thereafter. Received: 14 June 1996/Revised: 2 August 1996     

Enzymes of Heavy-Metal-Resistant and Non-Resistant Populations of Silene cucubalus and Their Interaction with Some Heavy Metals in vitro and in vivo

The in vitro and in vivo effects of copper, zinc, cadmium, nickel, cobalt, and manganese on nitrate reductase, malate dehydro-genase, isocitrate dehydrogenase, and glucose-6-phosphate dehydrogenase of zinc-, copper- and non-resistant populations of Silene cucubalus were investigated. During the in vitro experiments no resistant enzyme could be detected; enzymes of resistant and non-resistant ecotypes had a similar sensibility to all the metals. Nitrate reductase was the most sensitive enzyme. During the in vivo experiments remarkable differences were found. The nitrate reductase and the isocitrate dehydrogenase of the zinc-resistant population were activated when adding zinc to the culture medium, especially the nitrate reductase showed high activities at zinc concentrations where the nitrate reductase of the non-zinc-resistant populations was nearly completely inhibited. The zinc-resistant ecotype had a real need for zinc.     

The distribution of esterase D variants in different ethnic groups

Summary Blood samples collected from a number of human populations belonging to various ethnic groups were screened on cellogel for red-cell esterase D (ESD) variants. These data gathered during the present study together with those that have already appeared in the literature indicate that the common variant allele ESD ² occurs most frequently in the Mongoloid populations, least frequently in the Negroid, and with intermediate frequencies in the Caucasoids. An east to west cline was noticed in the northern populations of the Indian subcontinent; ESD ² gene frequencies in these populations were found to range between those among the Mongoloids and the Caucasoids.