Phosphoglucomutase Locus Research Articles

Genetic polymorphism and natural fertility in women

Objective: To investigate the cooperative interaction among five genetic systems (phosphoglucomutase locus 1, adenosine deaminase locus 1, acid phosphatase locus 1, adenylate kinase locus 1, and haptoglobin) concerning their effects on natural fertility in humans. Natural fertility has been evaluated by a model of age related differences between the distributions of types among pregnant women. Methods: A total of 137 nonsmoking consecutive puerperaes from the white population who had delivered their first born baby in the Maternity Department of S. Massimo Hospital of Penne were studied. The phenotypes of the five systems studied were determined by starch gel electrophoresis. Statistical analysis was performed using the statistical package for the social science. Results: There was a highly significant negative correlation between maternal age and the number of genetic factors showing a lower maternal age at the birth of the first child, which suggested a positive cooperative interaction among these factors concerning their effects on fertility. Conclusions: In the relationship of mother-fetus, besides nutritional factors, genetic factors involved in immunological interaction of the embryo with the mother are of paramount importance. Haptoglobin and adenosine deaminase locus 1 polymorphisms are involved in immune reactions and our data indicate that genetic variability within these systems gives a more important contribution to variation of human fertility as compared to acid phosphatase locus 1, phosphoglucomutase locus 1 and adenylate kinase locus 1 that are mainly involved in metabolic functions.

Seasonal and interannual changes in water temperature affect the genetic structure of a Daphnia assemblage (D. longispina complex) through genotype‐specific thermal tolerances

A field and laboratory study was carried out over 3 yr to determine relationships between seasonal and interannual changes in temperature (year‐specific temperature courses, presence or absence of ice in winter) and the genetic structure (composition of multilocus genotypes [MLGs]) of a Daphnia longispina assemblage. Field studies on temperature and genetic structures were linked with laboratory analyses to evaluate the thermal tolerance of long‐term 12°C‐, 18°C‐, and 24°C‐acclimated clonal lineages (CLs) derived from abundant MLGs sampled in the field (surface water and thermocline). The tolerance to warm temperatures (heat tolerance) was lowest in CLs derived from MLGs that were dominant directly after or before winter (winter‐CLs), higher in “spring‐autumn‐CLs,” and highest in “summer‐CLs.” Winter‐CLs also showed the highest degree of physiological plasticity. The differences in heat tolerance were mainly related to the different genotypes of the phosphoglucomutase (PGM) locus. Temperature conditions during winter and early spring affected the heat tolerance of all CLs as well as the success of different winter survival strategies (overwintering, resting eggs). Heat tolerance was lowest in CLs derived from MLGs sampled in 2006 (after the coldest winter and spring period), higher in CLs from 2005 (after a less cold winter and spring period), and highest in CLs from 2007 (after a warm, ice‐free winter). In addition to other environmental factors (predation, parasitism, food), seasonal and interannual changes in temperature affect Daphnia genetic structure through genetic differences in thermal responses, thermal tolerance, and physiological plasticity.

Genetic assessment of serological and biochemical markers in Bharia tribe of Chhindwara district of Madhya Pradesh

BACKGROUND:The present sero-genetic study is the first of its kind to present the baseline data of Bharia tribe of Madhya Pradesh. The main aim of this study is to provide phenotype and allele-frequency data to characterize the population genetically and to fill the void on the genetic map of Madhya Pradesh.MATERIALS AND METHODS:For this, blood samples from 92 unrelated healthy individuals of Bharia tribe from Chhindwara district (Tamia block) were collected. Hemolysates prepared were analyzed for two serological (A1A2BO and Rh) and six biochemical (adenosine deaminase, adenylate kinase locus 1, acid phosphatase locus 1, phosphoglucomutase locus 1, esterase D and glucosephosphate isomerase) parameters, following the standard electrophoretic techniques.RESULTS:The Chi-square test for goodness of fit revealed no significant deviation between the observed and expected numbers in any of the seven genetic markers, suggesting that the tribe is in genetic equilibrium. A high incidence of B allele in A1A2BO blood group and low incidence of the A1 allele, with presence of A2 in only one individual, and a low frequency of Rh(D) (Rh negative allele) was observed in serological markers. Also, no rare variant was observed for biochemical markers.CONCLUSION:Principal Component Analysis done in order to detect the genetic affinity of Bharia tribe with other populations from the adjoining states of Madhya Pradesh based on the allele frequencies, showed a close association of Bharia with Gujarat and Rajasthan. Hence, this study has been helpful in revealing the genetic structure and affinity of Bharia tribe.

Detection of the third phosphoglucomutase locus (PGM3) in human leucocytes.

Detection of the third phosphoglucomutase locus (PGM3) in human leucocytes.

Sibling species in the oligochaete worm Lumbricillus rivalis (Enchytraeidae) revealed by enzyme polymorphisms and breeding experiments

At least two sibling species were discovered in the oligochaete worm Lumbricillus rivalis Lev. by electrophoretic studies on the phosphoglucose isomerase (Pgi) and phosphoglucomutase (Pgm) loci and by breeding experiments. Based on the genetic differentiation, 22 populations studied were divided into three groups. This subdivision was correlated with differences in habitats. One of the groups is reproductively isolated from the other two, whereas the relationship between the latter remains unknown. The speciation is in some way associated with shift in the electrophoretic mobility of Pgi resulting in two assemblages, each containing a number of equidistant alleles. It is proposed that the speciation is associated with ecological adaptation to less saline environments.

Long-term isozyme variation in parthenogenetic polyploid forms of Lumbricillus lineatus (Enchytraeidae, Oligochaeta) in recently established environments

Polymorphism in the phosphoglucomutase and phosphoglucose isomerase loci was studied throughout several generations in parthenogenetic tri-, tetra- and pentaploid forms of Lumbricillus lineatus, occurring in the littoral zone along two canals connecting brackish fjords with the saline North Sea. Tetra- and pentaploids have not been found outside these restricted localities which are characterized by strong variations in salinity. It is supposed that spermatozoa produced by the tetra- and pentaploids activate the parthenogenetic eggs of all three biotypes. Restoration in the parthenogenetic eggs is of the ameiotic type. In spite of that only a moderate degree of heterozygosity was observed. More than one genetic variant were constantly present among tri- and tetraploids. A heterogeneous niche is proposed to account for the polymorphism observed. Both seasonal variations and long-term changes in the frequency of genotypes indicate a certain degree of evolutionary flexibility in these parthenogenetic organisms.

Blood Protein Polymorphism of Horse Types Being Bred by Public at Villages in Three Different Regions of Turkey

Summary Different breeds and types of horses are raised in different regions of Turkey. The numbers and types of native horses have declined steadily over time because of increased agricultural mechanization. The blood samples of 85 native Turkish horses of different types from different geographical regions (Kars-Erzurum 30, Şanliurfa 20 and Adapazari 35) were analysed for blood protein polymorphism. Starch gel electrophoresis, polyacrylamide gel electrophoresis and polyacrylamide isoelectric focusing were used to identify genotypic variants of albumin (ALB), transferrin (TF), hemoglobin alpha (HBA), vitamin D-binding protein (GC), serum carboxylesterase (ES), A1B-glycoprotein (A1B), 6-phosphogluconate dehyrogenase (6-PGD) and phosphoglucomutase (PGM) loci. The direct counting method was used to calculate the frequency of genes for blood protein systems. Homozygosity degrees and chi-square were calculated with the frequency of genes for blood protein systems. According to the results of chi-square testing on eight systems of three different regions, 6-PGD system was significant P<0.001 in the eastern population (Kars-Erzurum). Among the local horses in the south-east region (Şanliurfa) 6-PGD system (P<0.001) and HBA system (P<0.05) were found to be significant. On the other hand, in the western region (Adapazari), chi- square analyses of 6-PGD and HBA systems were found to be significant at P<0.05. In this study, it was found that the three different local horse types in the three regions descended from the same origin.

Genetically-Determined Polymorphism of Nonspecific Esterases and Phosphoglucomutase in Eight Introduced Breeds of the Silkworm,Bombyx mori, Raised in Bulgaria

Isoenzymes are very suitable markers for the study of the inter-breed diversity of the silkworm Bombyx mon L. (Lepidoptera: Bombycidae). More than 250 breeds are raised in Bulgaria, which are not very well studied with regard to their isoenzymic polymorphism. Polymorphism of nonspecific esterases from pupal haemolymph was analyzed, as well as of phosphoglucomutase from different organs of larvae, pupae and imago, from eight introduced breeds. Electrophoresis in polyacrylamide gels was used. A polylocus control of nonspecific esterases, and possible monolocus control of phosphoglucomutase was ascertained. Biallele and triallele polymorphism of phosphoglucomutase locus and in three of the esterase loci was determined. The allelic frequencies of the polymorphic loci in each breed were analyzed. Inter-breed differences were found in different allelic frequencies, different heterozygosity and polymorphism.

Phosphoglucomutase Genetic Polymorphism and Body Mass

We have searched for a possible association of the genetic polymorphism of Phosphoglucomutase locus 1 (PGM1), a key enzyme in carbohydrate metabolism, with body mass. Adults (n = 257) with type 2 diabetes, 74 children referred for "obesity," and 740 consecutive healthy newborn infants were studied. Body mass index, body weight, birth weight, and PGM1 phenotype were determined. Sexes were analyzed separately. In type 2 diabetes, females carrying the PGM1*2 allele are less represented among subjects with extreme body mass index deviation as compared with other classes of subjects. Among children referred for "obesity," females carrying the PGM1*2 allele are less represented among children with extreme body weight deviation. Among consecutive infants, in both sexes the proportion of those showing a birth weight higher than the 3rd quartile is lower in homozygous PGM12/2 subjects than in other PGM1 phenotypes. The data suggest that during extrauterine life, females carrying the PGM1*2 allele are relatively protected from extreme body mass increase. During intrauterine life, PGM12/2 homozygotes show a tendency to low body mass increase. Because PGM1 enzymatic activity depends on its phosphorylation status by the kinase Pak1, both structural differences of the PGM1 allelic product and different rates of activation by Pak between sexes might be responsible for the pattern observed. At present, the effect of other genes near PGM1 and in linkage disequilibrium with it cannot be ruled out.

Biochemical genetic relationship of Thailand and Hawaii isolates of Parastrongylus cantonensis (Nematoda: Angiostrongylidae)

The genetic relationship of the Thailand and Hawaii isolates (strains) of the rat lungworm Parastrongylus (= Angiostrongylus) cantonensis was investigated by gene–enzyme systems using vertical polyacrylamide slab gel electrophoresis. Six gene–enzyme systems were successfully determined, with each being represented by two presumptive loci. Glucose phosphate dehydrogenase, glucose phosphate isomerase, lactate dehydrogenase, malate dehydrogenase and malic enzyme were monomorphic at both loci, and the respective bands exhibited similar mobility in both isolates implying absence of genetic variation. Of the two phosphoglucomutase loci, the faster-moving locus (PGM-1) was polymorphic in the Hawaii isolate, represented by two alleles, the faster-moving, less common Pgm-1 A (allele frequency = 0.36 ± 0.03) and the slower-moving, more common Pgm-1 B (allele frequency = 0.64), with heterozygosity of 0.43. PGM-1 was monomorphic in the Thailand isolate, represented by the faster-moving Pgm-1 A allele. The slower-moving PGM-2 locus was invariant, with a single band of enzyme activity, in the female worms of both the Thailand and Hawaii isolates. There was no detectable enzyme activity at this PGM-2 locus in the male worms of both isolates. The non-expression or ‘null’ PGM-2 phenotype in the male worms was presumed to be sex-limited. Based on the six gene–enzyme systems with a total of 12 presumptive loci, it can be concluded that the Thailand and Hawaii isolates of P. cantonensis are genetically very similar, with a genetic distance of D = 0.03. The very low proportion of polymorphic loci ( P = 0.08) in the Hawaii isolate and its absence in the Thailand isolate may be attributed to founder effect (a special type of genetic drift).

Map Position of Phosphoglucomutase (&lt;I&gt;Pgm&lt;/I&gt;) Locus on Autosome IV of House Fly (Diptera: Muscidae)

We determined the map position of phosphoglucomutase (Pgm) locus on autosome IV of housefly, Musca domestica L. (Diptera: Muscidae), by using three and five point linkage test crosses. Test strains had visible mutant markers (car, bwb, cyw, and aabys). We analyzed 1738 offspring in total from two groups of single-pair matings by electrophoresis. Here, we report the linkage of Pgm locus to autosome IV loci curly wing (cyw) and yellow eyes (ye) with recombination frequency of 16.9 and 1.1%, respectively. We combined the distances calculated from this study and the previously published data. An updated linkage map of the M. domestica L. Autosome IV was drawn based on combined data in terms of real map units obtained from the mapping function.

Long-term stability of allozyme frequencies in a wood lemming, Myopus schisticolor, population with a biased sex ratio and density fluctuations

Wood lemming (Myopus schisticolor) populations are characterized by female biased sex ratios and cyclic variations in population size. Both of these characteristics are assumed to reduce genetic variation and thus affect the evolutionary adaptation of the species. We addressed these questions by studying the genetic structure of a wood lemming population from eastern Finland by isozyme markers during a 21-year period, which corresponds to 40-50 generations. Contingency tests showed that genotypic proportions conformed to Hardy-Weinberg equilibrium in each of the four sampling years. Among the temporal replicates, allele frequencies differed most by 0.14 and were not significant. Genetic variation was also stable and fairly high with a mean observed heterozygosity of H = 0.057. Variability in the Heinavesi population was higher than previously reported in wood lemming. The difference was mainly caused by variation at a phosphoglucomutase locus that was monomorphic in earlier studies. Significant linkage disequilibrium was observed in three of the comparisons but the disequilibrium did not appear consistently in all years. This pattern was also evidenced by the variance components, which indicated that selection favoured for specific allele pairs only in few subsamples.

First record of Trichinella pseudospiralis in the Slovak Republic found in domestic focus

Infection of Trichinella spp. is widespread among wildlife in Slovakia and the red fox ( Vulpes vulpes) is the main reservoir of Trichinella britovi. Trichinella spiralis has been rarely documented in sylvatic and domestic animals of this country. During routine examination of domestic pigs at the slaughter, Trichinella larvae were detected by artificial digestion in a domestic pig of a large-scale breeding farm in Eastern Slovakia. The parasite has been identified by molecular (PCR) and biochemical (allozymes) analyses and by the morphology of the nurse cell as the non-encapsulated species Trichinella pseudospiralis infecting both mammals and birds. The epidemiological investigation carried out at the farm level revealed the presence of the same parasite species in other three pigs of 192 examined (2.1%), in 3 of 14 (21.4%) examined synanthropic rats ( Rattus norvegicus) and in a domestic cat. The farm was characterized by inadequate sanitary conditions, insufficient nutrition, cannibalism and the presence of rat population. A different profile has been observed at the phosphoglucomutase locus in T. pseudospiralis isolates from Slovakia in comparison with the T. pseudospiralis reference isolate from the Palearctic region. This is the first documented focus of T. pseudospiralis from Central Europe. The detection in domestic pigs of a non-encapsulated parasite infecting both mammals and birds stresses the need to avoid the use of trichinelloscopy to detect this infection at the slaughterhouse.

Genetic Linkage Mapping and QTL Analysis of Economic Traits in Papaya (Carica papaya L.)

QTL mapping gives an insight into the number, position and effect of loci controlling quantitative traits. Although a few linkage maps already exist for papaya, not many economically important traits have been studied. An investigation was undertaken to map two qualitative traits: 1) fruit flesh color and 2) an isozyme locus, phosphoglucomutase (PGM); as well as two quantitative traits: 1) number of nodes to first flowering and 2) stamen carpellody. An F2 population consisting of 281 plants derived from the parents Kapoho X Saipan Red was used for this study. Field observations suggested that there may be a linkage between PGM locus and one of the major QTLs controlling number of nodes to first flowering. Also, phenotypic data suggested that there may be a linkage between flesh color and carpellody. Marker genotyping was performed on a subset of 84 plants chosen from the phenotypic extremes of the population for node number and carpellody. Using AFLP (Amplified fragment length polymorphism) method, 510 markers were generated with 161 primer pairs. Although papaya has a haploid chromosome number of 9, at LOD score 5.0 and a maximum recombination frequency of 0.25, 25 linkage groups with number of markers ranging from 2 to 109 were generated using the software Mapmaker\EXP. Linkage and QTL maps are being constructed to reveal the molecular markers linked with the traits of interest and the nature of QTLs controlling the quantitative traits.

Enzyme Variation Among the Muslim Community of Punjab

ABSTRACT To characterize genetically the Muslimpopulation of Punjab, a north–west Indian state, abiochemical genetics investigation using red cell enzymemarkers was planned. For this, blood samples from a total of992 Muslim subjects, belonging to the Sunni (803) and Shia(189) endogamous sects inhabiting Malerkotla town werecollected. Haemolysates were analysed for the phenotypesof seven different polymorphic red cell enzymes viz., AcidPhosphatase locus 1, Phosphoglucomutase locus 1, AdenylateKinase locus 1, Adenosine Deaminase, PhosphohexoseIsomerase, Esterase D and Glyoxalase locus 1, followingstandard electrophoretic techniques. The results of the presentstudy demonstrate that there were no significant geneticdifferences between the Sunni and Shia Muslim populationsof Malerkotla and their genetic constitutions were similar.Compared with their counterparts reported from various otherstates of India, the two Muslim groups studied here fromPunjab were found to be genetically homogeneous with mostof them .

Allozyme polymorphisms and heavy metal levels in the green-lipped mussel Perna viridis (Linnaeus) collected from contaminated and uncontaminated sites in Malaysia

It has been widely reported that heavy metal contamination in coastal waters can modify the allozyme profiles of marine organisms. Previous studies have recorded elevated metal concentrations in sediments and mussel tissues off Peninsular Malaysia. In the present study, horizontal starch gel electrophoresis was carried out to estimate the levels of allelic variation of the green-lipped mussel, Perna viridis, collected from one contaminated and three relatively uncontaminated sites off Peninsular Malaysia. Fourteen polymorphic loci were observed. In addition, the concentrations of cadmium, copper, lead, mercury and zinc were determined in the sediments and in the soft tissues of the mussels. Mussels from contaminated site, evidenced by high metal pollution indices (MPI) of the sediment and the mussel tissues, showed the highest percentage of polymorphic loci (78.6%), while those collected from the uncontaminated sites had lower MPI of the sediment and mussel tissue, and exhibited lower percentages of polymorphic loci (35.7–57.1%). The population from the contaminated site showed the highest excess of heterozygosity (0.289) when compared to that of the populations from the three uncontaminated sites (0.108–0.149). Allozyme frequencies at the phosphoglucomutase ( PGM; E.C. 2.7.5.1) locus also differed between the contaminated and uncontaminated populations. Previous studies have shown that exposure to heavy metals can select or counter-select for particular alleles at this locus. The present results suggest that allozyme polymorphism in P. viridis is a potential biomonitoring tool for heavy metal contamination but further validation is required.

The systematics of the Trichogramma minutum species complex (Hymenoptera: Trichogrammatidae), a group of important North American biological control agents: the evidence from reproductive compatibility and allozymes

Two North American Trichogramma, Trichogramma minutum Riley, and Trichogramma platneri Nagarkatti (the T. minutum complex), cannot be distinguished morphologically and their species status has been questioned. Both are commercially available for biological control and are important parasitoids of the eggs of Lepidoptera in agricultural ecosystems. Results are reported of an extensive survey of reproductive compatibility and allozymes at the phosphoglucomutase (Pgm) locus in collections representing 85 localities throughout much of the geographical range of this species complex. In total, 103 reproductive crosses were performed and 161 collections were analyzed electrophoretically. Results support the recognition of T. minutum and T. platneri as distinct species. The two are distinguishable electrophoretically at the Pgm locus. High levels of reproductive incompatibility are correlated with the allozymic differences. Although T. platneri is western in distribution (W of 115° longitude) and T. minutum is primarily eastern, the two are sympatric in the Pacific Northwest. A low level of interspecific hybridization in laboratory studies notwithstanding, there is no evidence that introgression occurs in the zone of sympatry. This study continues to stress the importance of species recognition and the inadvisability of using T. minutum and T. platneri interchangeably in biological control.

Birth weight and parental PGM1 alleles

A deviation of the maternal–neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy–Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother–newborn PGM1 genotype and intrauterine growth. There was a significant association between birth weight percentile class and mother–newborn PGM1 genotype in infant females. Also, the paternal PGM1*2 allele was associated negatively with macrosomia, and this effect was significant only in female infants. Am. J. Hum. Biol. 13:417–420, 2001. © 2001 Wiley-Liss, Inc.

Birth weight and parental PGM1 alleles.

A deviation of the maternal-neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy-Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother-newborn PGM1 genotype and intrauterine growth. There was a significant association between birth weight percentile class and mother-newborn PGM1 genotype in infant females. Also, the paternal PGM1*2 allele was associated negatively with macrosomia, and this effect was significant only in female infants.

Phosphoglucomutase genetic polymorphism of newborns

An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA as well as two alleles (PGM1*1 and PGM1*2). The joint maternal–neonatal PGM1 distribution in a sample from an Italian rural population is significantly different from that expected assuming Hardy–Weinberg conditions for equilibrium. Deviation is dependent on maternal age and parity. The joint mother–newborn PGM1 genotype distribution is significantly associated with a positive history of previous spontaneous miscarriage, suggesting that the presence of the PGM1*2 allele in the father predisposes to spontaneous abortion. This hypothesis is also supported by the observation that in couples with RSA, the delivery of a live born infant within 5 years from the first episode of miscarriage is negatively associated with the presence of a PGM1*2 allele in the husband. Altogether these observations suggest the hypothesis of PGM1 maternal selection at the reproductive level involving a differential role of PGM1*1 and PGM1*2 alleles of paternal origin. Am. J. Hum. Biol. 13:9–14, 2001. © 2001 Wiley-Liss, Inc.