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PubMedDate not supplied

Both maternal and foetal genetic factors contribute to macrosomia of diabetic pregnancy.

The study of 230 diabetic mothers along with their newborn babies has shown that foetal macrosomia is associated with two specific genomic sites: phosphoglucomutase locus 1 (PGM1)-Rhesus blood group (Rh) linkage group (chromosome 1) and HindIII restriction fragment length polymorphism (RFLP) linked to insulin-like growth factor 1 (IGF1) (chromosome 12). In PGM(1)2-1 mothers carrying the E allele, there is a proportion of 8.7% of macrosomic newborns as compared with 39.6% in mothers with other genotypes. The relationship between the maternal PGM1-RhE genotype and neonatal macrosomia does not depend on the type of diabetes. The proportion of macrosomic infants is much lower among newborns carrying the IGF1HS allele of the HindIII RFLP linked to IGF1 (20%) than among IGF1F/IGF1HF newborns (55%).

Chromosomes, Human, Pair 1↗
PubMed1975

Protein polymorphism in the Hanuman langur (Presbytis entellus).

26 specimens of Presbytis entellus were examined for a variety of blood proteins. In contrast to previous studies of other species of leaf monkeys, our P.entellus sample proved to be very heterogeneous. Polymorphisms were found in the third component of complement, group-specific component, glycine-rich beta-glycoprotein, alpha1-antitrypsin, phosphoglucomutase, 6-phosphogluconate dehydrogenase, adenylate kinase, superoxide dismutase, malate dehydrogenase, and phosphohexose isomerase. Variable band strengths that might represent polymorphism were found in acid phosphatase and lactate dehydrogenase. Further analyses of the P. cristatus sample studied by Barnicot and Hewett-Emmett failed to disclose variation. The interpretation of blood protein variability in relation to sample collection and population structure is discussed.

Acid Phosphatase↗
PubMed1985

Cytotoxic action of low dose Ara-C. Investigations in a marrow grafted patient with relapse.

A 35-year-old woman relapsing from acute myeloid leukemia (AML) after a bone marrow transplantation (BMT) achieved complete remission by low dose Ara-C treatment. Phosphoglucomutase 1 (PGM 1) isoenzyme analysis gave evidence for complete chimerism before relapse, whereas relapsing leukemia was autochtonous. Low dose Ara-C treatment cleared the marrow of leukemic blasts and reestablished normal in vitro growth patterns of myelopoiesis. Disappearance of autochthonous cells and regrowth of transplanted hematopoiesis was shown by PGM 1 isoenzyme analysis. Thus, low dose Ara-C exerted its action--at least in this patient--by cytotoxic mechanisms.

Adult↗
PubMed1975

Glycolytic enzymes in the normal human term placenta.

The enzymes hexokinase (HK), phosphoglucomutase (PGM), pyruvate kinase (PK) and lactate dehydrogenase (LDH) were assayed in villous tissue homogenates and cell fractions of normal human term placentas. Although lowest in activity and probably rate limiting in glycolysis, hexokinase is theoretically adequate to phosphorylate the total amount of glucose metabolized. PGM and PK activity were in the same range exceeding HK by 10-15 times, suggesting a largely increased breakdown of glycogen-derived glucose in situations of need. Substantially higher LDH activities may reflect the placental ability to utilize lactate from both mother and fetus. Of all enzymes only hexokinase was found to be associated with the particulate matter in considerable amounts.

Female↗
PubMedDate not supplied

Association of blood groups with essential and secondary hypertension. A possible association of the MNS system.

Persons participating in a 5-day diagnostic protocol were routinely typed for ABO, Rh, MNS, Kell, Kidd, Duffy, P, Haptoglobin, phosphoglucomutase-1 (PGM-1), and acid phosphatase (AcP). The study population was composed of 164 normotensive whites, 34 normotensive blacks, 161 whites and 43 blacks with essential hypertension, and 52 whites with secondary forms of hypertension (18 atherosclerotic renovascular hypertensives, 17 patients with fibromuscular disease, and 17 patients with primary aldosteronism). There were no significant differences in phenotype frequencies in ABO, Rh, Kidd, Kell, Duffy, P, Haptoglobin, PGM-1 or AcP in any of the comparisons. However, there was a significantly different distribution of MNS phenotypes in comparisons of essential and atherosclerotic renovascular hypertensives with normotensive controls. Essential hypertensives had a lower frequency of the S gene and a higher frequency of s in whites (X2 = 12.21, p less than 0.005). Atherosclerotic renovascular hypertensives differed from the normotensive population in the frequencies of both MN (X 2 = 4.34, p less than 0.05) and Ss (X2 = 4.21, p less than 0.05). The finding of disease-blood group associations supports the hypothesis that there may be significant physiological differences between individuals of different blood types.

ABO Blood-Group System↗
PubMed2001

Influence of exercise on the activity and the distribution between free and bound forms of glycolytic and associated enzymes in tissues of horse mackerel.

The effects of short-term burst (5 min at 1.8 m/s) swimming and long-term cruiser (60 min at 1.2 m/s) swimming on maximal enzyme activities and enzyme distribution between free and bound states were assessed for nine glycolytic and associated enzymes in tissues of horse mackerel, Trachurus mediterraneus ponticus. The effects of exercise were greatest in white muscle. The activities of phosphofructokinase (PFK), pyruvate kinase (PK), fructose-1,6-bisphosphatase (FBPase), and phosphoglucomutase (PGM) all decreased to 47, 37, 37 and 67%, respectively, during 60-min exercise and all enzymes except phosphoglucoisomerase (PGI) and PGM showed a change in the extent of binding to subcellular particulate fractions during exercise. In red muscle, exercise affected the activities of PGI, FBPase, PFK, and lactate dehydrogenase (LDH) and altered percent binding of only PK and LDH. In liver, exercise increased the PK activity 2.3-fold and reduced PGI 1.7-fold only after 5 min of exercise but altered the percent binding of seven enzymes. Fewer effects were seen in brain, with changes in the activities of aldolase and PGM and in percent binding of hexokinase, PFK and PK. Changes in enzyme activities and in binding interactions with subcellular particulate matter appear to support the altered demands of tissue energy metabolism during exercise.

Animals↗
PubMed1984

Review of isoelectric focusing for Gc, PGM1, Tf, and Pi subtypes: population distributions.

Isoelectric focusing (IEF) as a method for differentiating macromolecules with minor differences in isoelectric points has demonstrated an increase in the degree of genetic polymorphisms of the blood. Studies over the last 5 to 6 years have shown that genetic marker systems such as transferrin (TF), phosphoglucomutase (PGM1), the vitamin D-binding globulin (GC), and A1 antitrypsin (PI) are a great deal more polymorphic than observed using conventional electrophoresis. Additional genetic variants have been detected or further defined in such systems as esterase D (ESD) and hemoglobin (HB) to name a few. The increased heterozygosity levels of these genetic marker systems identified by IEF have added to their value in forensic medicine and resulted in further resolution of racial and population affinities. IEF should prove to be a valuable anthropological tool for measuring population structure and genetic distances.

Adult↗
PubMed1980

Use of nicotinamide adenine dinucleotide (NAD)-dependent glucose-6-phosphate dehydrogenase in enzyme staining procedures.

Substitution of nicotinamide adenine dinucleotide dependent glucose-6-phosphate dehydrogenase for the nicotinamide adenine dinucleotide phosphate dependent enzyme has produced identical results in a number of enzyme-linked electrophoretic staining procedures. This substitution significantly reduces the cost of staining for adenylate kinase, creatine kinase, glucosephosphate isomerase, mannosephosphate isomerase, phosphoglucomutase, and pyruvate kinase activity by utilizing NAD rather than the more expensive NADP.

Animals↗
PubMed1986

Isoenzyme patterns of Entamoeba histolytica isolates from asymptomatic carriers: use of gradient acrylamide gels.

A vertical polyacrylamide gradient gel (3% to 7%) was designed to facilitate the electrophoretic resolution and classification of isoenzyme patterns of Entamoeba histolytica isolates. The following enzyme systems were used: phosphoglucomutase (PGM), hexokinase (HX), glucosephosphate isomerase (GPI), and malate dehydrogenase (ME). The modifications in the electrophoretic procedure and sample preparation allowed the reproducible comparison of enzyme patterns of axenic, monoxenic, and mixed cultures of E. histolytica isolated from humans. The clear distinction obtained in gradient polyacrylamide gels, between amebic isoenzyme bands and those from bacteria, renders this technique adequate for application to epidemiological studies where mixed cultures are used. The isoenzyme patterns of eight isolates from asymptomatic carriers, rigorously characterized by the absence of clinical, endoscopic, and serological findings were studied and compared with three well characterized pathogenic strains, cultured under axenic conditions. Our observations confirm the existence of distinct isoenzyme patterns for PGM, HX, and GPI in pathogenic and nonpathogenic strains, and reveal the consistent presence of more than one band for GPI. In addition, a previously undescribed band for GPI with an Rf of 0.64 in a carrier strain was found. The results suggest that while carriers usually harbor amebas with nonpathogenic isoenzyme patterns, pathogenic patterns also may be found in carriers.

Carrier State↗
PubMed1986

Identification of larval and adult Simulium yahense and Simulium sanctipauli based on species-specific enzyme markers and their distribution at different breeding habitats in Central Liberia.

Human-biting adults and late instar larvae of the Simulium damnosum complex from four ecologically different simuliid breeding habitats in the Firestone Rubber Plantation at Harbel, Liberia, were identified morphologically and the monthly species composition of each site was recorded. Samples of the predominant species found at each site were assayed electrophoretically for species-specific variants of phosphoglucomutase (PGM) and trehalase (TRE). Enzyme identifications of flies and larvae were compared with morphological identifications to determine the accuracy of field identifications relying upon morphological characters. Enzyme identifications confirmed the accuracy of over 98% of the adult female identifications. S. yahense was found to be the predominant human-biting species at each site over the 10 months of sampling, with S. sanctipauli comprising a small percentage of the biting fly population. Species-specific larval enzymes confirmed the accuracy of more than 96% of the larval identifications. S. yahense was the predominant larval species found in smaller, more shaded, cooler breeding waters, while S. sanctipauli predominated in the single large watercourse that was sampled. Normally allopatric, mixed populations of these two larval species were found to exist at all sites, but sympatry occurred primarily during the wet season months of May-October. Biting activity of S. sanctipauli was found to be greatest during wet season months, and generally reflected the increase of S. sanctipauli in the larval populations of habitats dominated by S. yahense. The low human-biting activity of S. sanctipauli at all sites and during times which fostered large populations of S. sanctipauli larvae may be an indication of this specie's zoophilic tendency. Circumstantial evidence of hybridization, the expression of PGM and TRE species-specific variants for both species, was found in adults and larvae morphologically identified as S. yahense. The frequency of this "hybrid" condition, based upon PGM and TRE, was calculated to be comparable to the frequency of hybridization as determined by larval chromosome inversions.

Animals↗
PubMed1986

Resistance to falciparum malaria among adults in central Sudan.

Adults claiming resistance to malaria were identified in the Sennar region of central Sudan, where P. falciparum is hyperendemic but seasonal in transmission. Indirect fluorescent antibody (IFA) titers of sera from these individuals were comparable to those of malaria patients with positive blood films, indicating equal exposure, while in vitro antiparasitic activity of their sera tended to be higher, indicating an effective immunological response to falciparum malaria. Hemoglobin S (Hb S) was significantly more prevalent in adults resistant to malaria. This trait offers protection at the erythrocyte level and it is also possible that it could enhance the ability of carrier adults to acquire protective immunity. Erythrocyte 6-phosphogluconate dehydrogenase A (PGDA) and phosphoglucomutase 1 (PGM1), phenotypes of unknown relevance to protection against falciparum malaria, were also significantly more prevalent in those claiming resistance to malaria. A trend of higher prevalence for erythrocyte glucose-6-phosphate dehydrogenase deficiency (G6PD-), Kell (+) and transferrin D (TfD) was detected among resistant individuals and higher KP(a+) and P2 among malaria patients, but the numbers evaluated in this study did not allow determination of statistical significance. No association was found with erythrocyte glyoxalases, ABO and Duffy blood groups and serum haptoglobins.

Adolescent↗
PubMed1996

Genetic exchange as a possible source of genomic diversity in sylvatic populations of Trypanosoma cruzi.

Thirty six stocks of Trypanosoma cruzi isolated from sylvatic mammals (32 Didelphis marsupialis and one Philander opossum) and triatomine bugs (Rhodnius robustus and one unidentified bug) in the Amazonian forest by Carajas, Brazil were characterized by isoenzyme and random amplified polymorphic DNA (RAPD) analysis as belonging to principal zymodeme '1 (Z1). Two different homozygous phenotypes and the corresponding heterozygous phenotype were found for phosphoglucomutase with an observed frequency almost identical with that predicted by the theoretical Hardy-Weinberg distribution. Parental and hybrid profiles were also suggested by RAPD analysis, which allowed exclusion of mixed parental strains from the hybrids: isoenzyme and RAPD profiles of biological clones were also indistinguishable from those of uncloned stocks. Trypanosoma cruzi stocks from widely separated geographic origins in Central and South America gave similar RAPD profiles that allowed them to be recognized as being Z1. These results indicate that genetic exchange could contribute to the generation of genetic diversity during the sylvatic cycle of T. cruzi, and this may have epidemiologic and taxonomic implications.

Animals↗
PubMed1999

Population structure of the primary malaria vector in South America, Anopheles darlingi, using isozyme, random amplified polymorphic DNA, internal transcribed spacer 2, and morphologic markers.

A genetic and morphologic survey of Anopheles darlingi populations collected from seven countries in Central and South America was performed to clarify the taxonomic status of this major malaria vector species in the Americas. Population genetics was based on three techniques including isozyme, random amplified polymorphic DNA-polymerase chain reaction (RAPD-PCR), and internal transcribed spacer 2 (ITS2) markers. The results of the isozyme analysis indicated moderate differences in the allele frequencies of three putative loci (glutamate oxalaoacetate transaminase-1, isocitrate dehydrogenase-1, and phosphoglucomutase) of the 31 analyzed. No fixed electromorphic differences separated the populations of An. darlingi, which showed little genetic divergence (Nei distances = 0.976-0.995). Fragments produced by RAPD-PCR demonstrated evidence of geographic partitioning and showed that all populations were separated by small genetic distances as measured with the 1 - S distance matrix. The ITS2 sequences for all samples were identical except for four individuals from Belize that differed by a three-base deletion (CCC). The morphologic study demonstrated that the Euclidean distances ranged from 0.02 to 0.14, with the highest value observed between populations from Belize and Bolivia. Based on these analyses, all the An. darlingi populations examined demonstrated a genetic similarity that is consistent with the existence of a single species and suggest that gene flow is occurring throughout the species' geographic range.

Animals↗
PubMedDate not supplied

[Study of the mechanism of erythropoietin effect on energy metabolism in the bone marrow].

In extracts of rabbit bone marrow cells was studied effect of erythropoietine on the activity of some enzymes (hexokinase, phosphoglucomutase, phosphohexoisomerase, lactate dehydrogenase, glucoso-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase and NADP-reductase). The NADP-reductase activity was increased under the effect of erythropoietine; the activities of other enzymes studied was not altered.

Animals↗
PubMed1998

Intelligence and genetic markers in Chilean children.

Genetic markers and total intelligence quotient (IQ) assessed by WISC (Wechsler Intelligence Scale for Children) were studied in children of both sexes from Santiago, Chile. Heterozygous boys for phosphoglucomutase 1 (PGM) and heterozygous girls for haptoglobin (Hp) had lower IQ than homozygotes. For ABO system, B girls had lower and B boys had higher IQ than children with other ABO phenotypes. These differences were highly significant with the two tailed t'-test (Student's t-test with the Welch-Satterthwaite correction for degrees of freedom), and most of them remained significant after the correction for multiple comparisons. Girls had greater variance of IQ than boys. Relationships between homozygotes and heterozygotes were found in two independent studies. Thus, the genetic relationship found here seems likely to be a true biotic effect.

ABO Blood-Group System↗
PubMed1975

[Gene localization in the chimpanzee (Pan troglodytes). Comparison with the factor mapping of man (Homo sapiens)].

Ten independant cellular hybrids were obtained from Chimpanzee (Pan troglodytes) fibroblasts and the murine cell line C11D. The comparison of electrophoretic and cytogenetic studies showed that 9 markers with known localizations in Man could also be localized on the homologous chromosomes of the Chimpanzee: pyrophosphate hydratase (PPH), phosphoglucomutase-1 (PGM1), and peptidase-C (Pep-C) on the No. 1; malate dehydrogenase MDH(NAD) on the No. 2; lactico dehydrogenase-A (LDH-A) on the No. 11; lactico dehydrogenase-B (LDH-B) on the No. 12; thymidine kinase (TK) on the No. 17; superoxide dismutase-1 (SOD-1) on the No. 21; glucose-6-phosphate dehydrogenase (G6PD) on the X. The localization of mannose phosphate isomerase (MPI) on the No. 7 could be excluded. One discrepancy between Chimpanzee and Man was noted: the localization of superoxide dismutase-2 (SOD-2) on the 6 is excluded.

Animals↗
PubMed2000

[Genetic factors predisposing to occupational fluorosis].

Having analyzed a total amount of all systems, the authors specified the most important genetic markers predisposing to chronic flour intoxication: the patients demonstrated higher frequency of ACP1*A and PGM1*1-alleles, phenotypes of acid phosphatase AA, of phosphoglucomutase 1+1+ and 2+2+, of dry cerumen consistence--d. The results could help to improve criteria of occupational selection and to specify practical recommendations on prophylaxis of chronic fluor intoxication.

Adult↗
PubMed1989

Gravitropism in a starchless mutant of Arabidopsis: implications for the starch-statolith theory of gravity sensing.

The starch-statolith theory of gravity reception has been tested with a mutant of Arabidopsis thaliana (L.) Heynh. which, lacking plastid phosphoglucomutase (EC 2.7.5.1) activity, does not synthesize starch. The hypocotyls and seedling roots of the mutant were examined by light and electron microscopy to confirm that they did not contain starch. In upright wild-type (WT) seedlings, starch-filled plastids in the starch sheath of the hypocotyl and in three of the five columellar layers of the root cap were piled on the cell floors, and sedimented to the ceilings when the plants were inverted. However, starchless plastids of the mutant were not significantly sedimented in these cells in either upright or inverted seedlings. Gravitropism of light-grown seedling roots was vigorous: e.g., 10 degrees curvature developed in mutants rotated on a clinostat following a 5 min induction at 1 g, compared with 14 degrees in the WT. Curvatures induced during intervals from 2.5 to 30 min were 70% as great in the mutant as the WT. Thus under these conditions the presence of starch and the sedimentation of plastids are unnecessary for reception of gravity by Arabidopsis roots. Gravitropism by hypocotyls of light-grown seedlings was less vigorous than that by roots, but the mutant hypocotyls exhibited an average of 70-80% as much curvature as the WT. Roots and hypocotyls of etiolated seedlings and flower stalks of mature plants were also gravitropic, although in these cases the mutant was generally less closely comparable to the WT. Thus, starch is also unnecessary for gravity reception in these tissues.

Arabidopsis↗