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PubMed1977

Three linked enzyme loci in fishes: implications in the evolution of vertebrate chromosomes.

A three-point linkage group comprised of loci coding for adenosine deaminase (ADA), glucose-6-phosphate dehydrogenase (G6PDH), and 6-phospho-gluconate dehydrogenase (6PGD) is described in fish of the genus Xiphophorus (Poeciliidae). The alleles at loci in this group were shown to assort independently from the alleles at three other loci--isocitrate dehydrogenase 1 and 2, and glyceraldehyde-3-phosphate dehydrogenase 1. Alleles at the latter three loci also assort independently from each other. Data were obtained by observing the segregation of electrophoretically variant alleles in reciprocal backcross hybrids derived from crosses between either X. helleri guentheri or X. h. strigatus and X. maculatus. The linkage component of chi2 was significant (less than 0.01) in all crosses, indicating that the linkage group is conserved in all populations of both species of Xiphophorus examined. While data from X. h. guentheri backcrosses indicate the linkage relationship ADA--6%--G6PDH--24%--6PGD, and ADA--29%--6PGD (30% when corrected for double crossovers), data from backcrosses involving strigatus, while supporting the same gene order, yielded significantly different recombination frequencies. The likelihood of the difference being due to an inversion could not be separated from the possibility of a sex effect on recombination in the present data. The linkage of 6PGD and G6PDH has been shown to exist in species of at least three classes of vertebrates, indicating the possibility of evolutionary conservation of this linkage.

Adenosine Deaminase↗
PubMed1975

Demonstration of a specific metabolic effect of dietary disaccharides in the rat.

Male Wistar rats were starved and refed diets containing either 40% carbohydrate as monosaccharides (glucose, fructose, invert sugar) or disaccharides (maltose, sucrose), or 42.2% carbohydrate as glucose. Induction of various liver enzymes and changes in total liver lipid levels by the different dietary sugars were studied. Liver enzymes measured included glucose-6-phosphate dehydrogenase (g6pd), 6-phosphogluconate dehydrogenase (6PGD), malic enzyme (ME), phosphofructokinase (PFK), L-alpha-glycerol phosphate dehydrogenase (LalphaGPD), pyruvate kinase (PK), citrate cleavage enzyme (CCE), acetyl CoA carboxylase (AcCoAC), and fatty acid synthetase (FAS). The responses in enzyme activity to diets containing glucose or invert sugar were used as the basal response. Enzyme responses to refeeding the carbohydrate diets fell into three categories: (1) enzyme activity increased both by the disaccharide configuration of the carbohydrate and by fructose (G6PD, PK, CCE, AcCoAC, FAS); (2) enzyme activity increased only by the disaccharide configuration of the carbohydrate (6PGD, ME); and (3) enzyme activity increased only by fructose (PFK, LalphaGPD). Total liver lipid level was increased both by the disaccharide configuration of the carbohydrate and by fructose. Refeeding diets containing equal molar amounts of glucose or maltose did not abolish the disaccharide effect. The data indicate that the disaccharide configuration of maltose and sucrose may have an effect at the gastrointestinal level, which causes an increased induction of certain enzymes in the liver.

ATP Citrate (pro-S)-Lyase↗
PubMed1976

The diurnal rhythm of enzymes in human red cells.

The activities of glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate: NADP oxidoreductase, G6PD), 6-phosphogluconate dehydrogenase (6-phospho-d-gluconate: NADP oxidoreductase, 6PGD), hexokinase (ATP:D-hexose 6-phosphotransferase, HK), lactic dehydrogeanse (L-lactate: NAD oxidoreductase, LDH) and aspirate aminotransferase (L-aspartate: 2-oxoglutarate aminotransferase, Asp.T) were determined in red blood cells of 11 healthy individuals. The determinations were carried out on samples drawn every 4 h over a 24 h period. The activities of G6PD, 6PGD, LDH and Asp.T exhibited a semi-circadian rhythm, namely, two peaks of activity during 24 h while HK activity demonstrated a true circadian rhythm. In addition a polymorphism of the G6PD and LDH activity patterns was observed. The implications of a biological clock in enucleated cells are discussed.

Aspartate Aminotransferases↗
PubMed1979

Some enzyme polymorphisms in Malaysian mothers and their newborn.

Four red cell enzyme systems were studied in Malaysian mothers and their newborn belonging to three racial groups, the Malays, Indians and Chinese. No significant heterogeneity was observed in the distribution of phosphoglucomutase (PGM1), adenosine deaminase (ADA), 6-phosphogluconate dehydrogenase (6PGD) and acid phosphatase (AP) phenotypes between mothers and their newborn of the three groups. Pooled mother and child acid phosphatase data show a significant heterogeneity between the Malays and Chinese, and between the Malays and Indians. This is comparable to previous studies conducted. For the placental phosphoglucomutase (PGM3) system, a significant heterogeneity was observed between the Chinese and Malays only. No significant heterogeneity was detected in the distribution of PGM1, ADA and 6PGD phenotypes among Malays, Chinese and Indians.

Acid Phosphatase↗
PubMed1975

Undifferentiated patterns of key glycolytic and gluconeogenic enzymes in epithelial cell lines derived from rat liver.

Established epithelial cell lines derived from livers of 7-day (B, B-R, B-3-4-7, J-C-1, J-C-13, J-5-2-1, E-C-4 and E-C-7) and adult (AL-2, AL-3, AL-4, AL-5 and AL-6) rats were analyzed for hexokinase (HK), pyruvate kinase (PK), glucose 6-phosphate dehydrogenase (G6PD), 6-phosphogluconate dehydrogenase (6PGD), glucose 6-phosphatase (G6Pase) and fructose 1,6-diphosphatase (FDPase). None of the cell lines showed appreciable activities of adult type liver enzymes (HK Type IVs (glucokinase), PK Type L, G6Pase and FDPase). On the contrary, the activities of fetal type liver enzymes (HK Types I and II, PK Type M2 and G6PD) increased markedly as compared with dispersed cells or tissues of adult liver. 6PGD gave minimum changes in activity, and the 6PGD/G6PD ratio decreased consistently. HK Type III was found only in J-C-13, AL-5 and AL-6, while HK Type IVf (high Km) was present in all the cell lines examined. Possible explanations for the undifferentiated patterns of carbohydrate-metabolizing enzymes in the established cell lines, which have several evidence of hepatocyte origin, are presented.

Alcohol Oxidoreductases↗
PubMedDate not supplied

[Nature of mutations disrupting the formation of 6-phosphogluconate dehydrogenase in Drosophila melanogaster, and their suppression].

Molecular nature of lethal and semilethal mutations in the Pgd locus of D. melanogaster coding for 6-phosphogluconate dehydrogenase (6tpgd) was studied. All these mutations affect the structural gene of the Pgd locus: 3 semilethal mutations resulted in altered 6PGD molecules with the decreased catalytic activity; the remaining 8 lethals were "zero" alleles possessing mutant polypeptides inactive but capable to react with antisera against highly purified 6PGD. "Zero" or low activity alleles for glucose-6-phosphate dehydrogenase induced by ethyl methansulfonate were shown to be supressors for the lethal mutations in the Pgd locus. A monocistronic type of organization of the Pgd locus is suggested taking into account the biochemical mechanism of supression of the Pgd-lethals and their location in the structural gene coding for 6GPD.

Alleles↗
PubMed1979

Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).

A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a lesser extent, of PK, PGI, 6PGD, and G6PD. It is suggested that the HK1 locus may be in the 10pter leads to p12 region. The increased levels of HK1 could affect other erythrocyte metabolic pathways slowing down the physiological rate of cellular senescence and result in increased activity levels of other cell-age-dependent enzymes.

Cell Survival↗
PubMed1978

Screening of inbred rat strains for electrophoretic protein polymorphisms.

Nineteen inbred strains of the laboratory rat (Rattus norvegicus) were investigated for genetic differences by starch and agarose gel electrophoretic techniques. For six out of 21 loci, interstrain differences were observed: Tf, 6PGD, Es-1, Es-4, Es-5, and Svp. The variants are briefly described and the allelic distributions are tabulated. The 6GPD locus was found to be linked neither to the major histocompatibility gene region nor to the coat color genes c, a, h.

Animals↗
PubMed1979

Biochemical genetic markers in the Kadazans of Sabah, Malaysia.

Kadazans, the largest indigenous group in Sabah, northern Borneo, were surveyed for glyoxalase I, phosphoglucomutase I, red cell acid phosphatase, esterase D, adenosine deaminase, soluble glutamate pyruvate transaminase, soluble glutamate oxaloacetate transaminase, 6-phosphogluconate dehydrogenase, uridine monophosphate kinase, adenylate kinase, peptidase B and D, superoxide dismutase, C5, group specific component, haptoglobin and transferrin. Kadazans were found to be polymorphic for GLO I, PGM I, RCAP, esterase D, ADA, s-Gpt, 6PGD, UMPK, Gc, C5, haptoglobin and peptidase B. Rare variants were found for transferrin and peptidase D. No variant was found for s-Got, SOD and AK.

Acid Phosphatase↗
PubMed1978

Euploid somatic recombinants with two active X or XY (1)Y(I) chromosomes isolated from cultured male Indian Muntjac cells after HVJ virus fusion, and their use for gene assignment.

Four diploid somatic recombinants were isolated from hybrids either between or within two diploid cell lines of a male Indian muntjac after HVJ virus-mediated cell fusion. Both parental lines had a normal male karyotype, 7,X,Y1,Y2, in which the largest autosomal pair was heteromorphic with respect to the size of the secondary constriction (1h+/1h-), C bands, and nucleolar organizers. Of the four recombinants, three showed a 6,XX,1h+/1h+ or 1h+/1h- karyotype, the remaining one a 7,XY1Y2,1h+/1h+. No late-replicating X chromosome was found in the XX recombinants, although it was demonstrated in the natural XX line, suggesting the presence of two active X chromosomes in the former. The G6PD, PGK, and HPRT activities were proportional to the number of active X chromosomes present in all cell types examined, indicating their X-linkage, whereas the same level of activities obtained for LDH and 6PGD indicated their autosomal linkage.

Animals↗
PubMed1975

The distribution of enzyme variation in populations of Plasmodium falciparum in Africa.

Isolates of Plasmodium falciparum collected from the east and west coasts of tropical Africa and also from several inland regions have been examined for electrophoretic forms of the enzymes GPI, LDH and 6PGD. Variation within and between isolates was found in the parasite forms of all three enzymes. While not disproving the existence of genetic divisions between P. falciparum populations in Africa the distribution of this variation provides no evidence for such a hypothesis.

Africa, Eastern↗
PubMed1978

[Serum proteins and erythrocyte enzymes. Evaluation of frequencies in 2 populations in the Gabon].

The results of the electrophoretic phenotyping of two serum groups (C'3 and Transferrine) and seven red cell enzymes (PAc, PGM, AK, ADA, 6PGD, sGPT and Est D) in two groups of negroes from Gabon are presented. The frequencies are in the normal range observed for African populations except for acid phosphatase in Southern Africa; Khoisan people have frequencies of the "Negroe allele R" higher than in any other population of the world. In Obamba and Bateke populations frequencies of Pr is 0.013.

Adenosine Deaminase↗
PubMedDate not supplied

The genetics of leprosy.

Population and family distributions of leprosy in the Bogia Subprovince of Papua New Guinea have been examined for evidence of inherited susceptibility to the disease. Evidence for multigenic inheritance of leprosy severity is provided by the restriction of pleiotropy with red-cell enzyme 6PGD phenotypes to a single clinical form of leprosy and by the superior fit of pedigree data to a multifactorial, rather than single-gene model, of inheritance. Discrimination of the multifactorial model as superior to the single-gene model in testing the mode of inheritance of quasi-continuous multiple threshold traits was possible by extending the models to incorporate information on assortative mating for leprosy. Leprosy epidemiological patterns simulated blood genetic marker gene frequency distributions of 13 polymorphic loci in their dependence on linguistic and distance effects. In an analysis of leprosy prevalence rates in 25 languages, leprosy rates corresponded more closely with linguistic similarity than with geographic proximity, suggesting the importance of ancestral genetic relationships between groups as a determinant of similarity in between-group leprosy susceptibility.

Blood Group Antigens↗
PubMed1979

Phenotyping of eight erythrocytic enzymes in one acrylamide gel.

A procedure has been developed to phenotype eight erythrocytic enzymes, phosphoglucomutase (PGM1), adenylate kinase (AK), 6-phosphogluconate dehydrogenase (6PGD), adenosine deaminase (ADA), glyoxalase (GLO), esterase-D (EsD), acid phosphatase (AcP), and glutamic pyruvate transaminase (GPT) in one acrylamide gel and also to detect the presence of common abnormal hemoglobins. The agar overlay technic has been eliminated. This simplified procedure renders the phenotyping of erythrocytic enzymes practical in paternity testing.

Acid Phosphatase↗
PubMed1979

Red blood cell enzyme abnormalities in patients treated with chemotherapy.

Sxiteen red blood cell enzyme activities and fetal haemoglobin level have been assayed in 60 patients treated for haematologic or nonhaematologic malignant diseases with various combinations of cytostatic drugs. Acquired enzyme deficiency was found in 20 patients. The most frequently decreased activities were those of G6PD (12 cases), PK (seven cases), PFK (six cases) and AK (three cases). In many patients decreased activity of some enzymes contrasted with increased activity of others such as ALD, TPI, G3PD, PGK, ENOL and 6PGD. The number of abnormalities seems to be related to the duration of the treatment. Incidence of enzyme deficiencies was similar in patients previously treated or not with radiotherapy. Enzyme abnormalities were correlated neither with haemoglobin level nor with reticulocyte count. They were very similar to those observed in primary acquired dyserythropoietic and preleukaemic states. Their prognostic value and mechanism are discussed.

Drug Therapy, Combination↗
PubMed1979

Linkage analysis using heterozygote detection in phenylketonuria.

This linkage investigation was undertaken utilizing an improved method for phenylketonuria (PKU) heterozygote detection. This method is based on studies of semi-fasting, noon-time, blood specimens obtained from 85 obligate heterozgotes and 45 controls who were neither pregnant nor on birth control medication. The best separation between heterozygotes and normals was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine, tyrosine and tryptophan. The theoretical overlap area between the distributions of heterozygotes and controls, based on the above function, was between the distributions of heterozygotes and controls, based on the above function, was 3.75%. In 19 obligate heterozygotes and 13 controls who were either pregnant or on birth control medication, the best separation was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine and tyrosine. The theoretical overlap area was 8.23%. These equations identified heterozygotes with sufficient accuracy to permit efficient genetic linkage analysis. We were unable to demonstrate genetic linkage between the PKU locus and 15 common blood, serum, and urinary markers. All but loose linkage (theta greater than 0.3) was excluded for Rh, ABO, Gc, Kidd, and AP. Moderate linkage exclusion (theta less than 0.2) was shown for PGM, Duffy, Hp, MNS, HL--A, and Kell. Close linkage (theta less than 0.1) was excluded for Amy2, 6PGD, P, and ADA. We were unable to find linkage heterogeneity between the Amish and non-Amish populations.

Chromosome Mapping↗