Primate red cell enzymes: glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase

Glucose-6-phosphate dehydrogenase (E. C.: 1.1.1.49) phenotypes and 6-phosphogluconate dehydrogenase (E. C.: 1.1.1.44) phenotypes were determined by starch-gel electrophoresis of red cell hemolysates of Galago crassicaudatus subspp., Propithecus verreauxi, Lemur spp., Hapalemur griseus, and Macaca mulatta. A single glucose-6-phosphate dehydrogenase (G6PD) phenotype was found in each species. A single 6-phosphogluconate dehydrogenase (6PGD) phenotype was found in Lemur spp., Hapalemur griseus, and Galago crassicaudatus argentatus. In a group of six Propithecus verreauxi, three 6PGD phenotypes, PGD A, PGD AB, and PGD B, were found. Three phenotypes, PGD A, PGD AB, and PGD B, were found in 38 G. c. crassicaudatus. The three phenotypes in each species are apparently the products of two codominant autosomal alleles, PGD^A and PGD^B. The frequency of PGD^A in G. c. crassicaudatus is 0.263. A population of 260 free-ranging macaques displays a polymorphism at the 6PGD locus. Three phenotypes, PGD A, PGD AB, and PGD B, were found. These also appear to be controlled by two codominant autosomal alleles, PGD^A and PGD^B the frequency of PGD^A = 0.913. Additional analysis of three well-defined troops within the macaque population indicated that there are no significant differences between the troops or within the population at the 6PGD locus.     

Glucose phosphate isomerase and 6-phosphogluconate dehydrogenase polymorphism in Malaysian leaf monkeys

Glucose phosphate isomerase and 6-phosphogluconate dehydrogenase were found to be polymorphic in Malaysian leaf monkeys. Two glucose phosphate isomerase electrophoretic phenotypes were presumed to be homozygous. Three 6-phosphogluconate alleles and four electrophoretic phenotypes were present. The allele frequencies inPresbytis obscura werePgd ^A=0.64,Pgd ^B=0.27 andPgd ^C=0.09. The frequencies of the 6-PGD phenotypes inP. obscura were not in accord with Hardy-Weinberg expectations. All the biochemical markers examined show identical electrophoretic patterns in the Malaysian leaf monkeys.     

Methemoglobin reductase in three species of Bovidae

Isoelectric focusing of red cell hemolysates revealed several isozymes that stain for NADH-methemoglobin reductase. Evidence for two different genetic loci controlling the banding patterns was obtained. One locus controlled a single band present in all animals tested. The second locus controlled ten different banding patterns that could be accounted for by four codominant alleles. Band B occurred in Bison bison. Bands A and C occurred in Bos indicus and band D occurred in both Bos indicus and Bos taurus. Bands A, C, and D were not observed in Bison bison and bands A, B, and C were not observed in Bos taurus.     

Genetic polymorphism of the seventh component of complement in a Japanese population

Summary Genetic polymorphism of C7 in a Japanese population has been described, using polyacrylamide gel isoelectric focusing electrophoresis followed by an electrophoretic blotting technique. Phenotypes of C7 were classified into six common patterns, and observed phenotypes were produced by autosomal codominant at a single locus with three alleles. Three common alleles, designated C7^*B, C7^*M and C7^*A, were found, and gene frequencies calculated from 494 individuals showed C7^*B=0.858, C7^*M=0.096 and C7^*A=0.046, respectively. It is noteworthy that both C7^*M and C7^*A have polymorphic frequencies in the Japanese population. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. Results indicate that the electrophoretic blotting technique, which has high specificity and sensitivity, is applicable in the study of heterogeneity of protein antigens.     

Starch-gel electrophoretic variants of erythrocyte 6-phosphogluconate dehydrogenase in asian macaques

Five alleles with eight electrophoretic phenotypes of 6-phosphogluconate dehydrogenase were found in 1,195 blood samples from fourteen populations of nine macaque species.Macaca fascicularis from Malaya showed the most polymorphism, with three Pgd alleles resulting in five phenotypes.Macaca mulatta, M. speciosa, M. nemestrina, andM. cyclopis had two alleles each (although the last two species showed a high percentage of homozygosity). The remaining four species (M. fuscata, M. radiata, M. maura, andM. nigra) were homozygous for the Pgd^a allele. The predominance of Pgd^a was observed in all macaque species, exceptM. speciosa which showed a high (57%) frequency of Pgd^d. The distinctive position ofM. speciosa with regard to 6PGD variants parallels observations that indicate that this species carries transferrin and carbonic anhydrase I alleles in different frequencies from those of the other macaque species. Other similarities between the patterns of transferrin and 6PGD variations include a tendency toward homozygosity at the Pgd locus in the insular macaque forms. However, in this case only the Pgd^a allele is involved, while some variation was found in the transferrin alleles fixed by the founder effect in the insular macaques.This research was supported by NSF grants GF 253, GB 7426, and GB 15060 of the U.S.-Japan Cooperative Science and Systematic Biology Programs.     

Phenotype and gene frequencies of acid phosphatase (s-AcP) in the human parotid saliva

Summary Genetic polymorphism of the human parotid salivary acid phosphatase (s-AcP) in the Japanese population is described. The use of polyacrylamide gel isoelectric focusing electrophoresis with the pH range of 4.0–6.5 enabled us to discern three variant patterns controlled by two codominant alleles at the single autosomal locus. The two alleles were designated s-AcP: A and s-AcP:a, and the gene frequencies calculated from 183 Japanese subjects were s-AcP:A=0.2268±0.022, s-AcP:a=0.7732±0.022, respectively. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium.     

A new method for FXIIIA genetic variants determination using isoelectric focusing in 1 M urea

Summary A new method for separating genetic variants of the A subunit of human coagulation factor XIII using ultrathin layer polyacrylamide gel isoelectric focusing in 1M urea followed by immunoblotting is described. The pattern obtained by this method differs from that reported previously: Three sets of unrelated band patterns are observed and can be explained by the existence of two additional gene loci, designated FXIIIA2 and FXIIIA3, besides the previously reported FXIIIA locus, now renamed FXIIIA1. The FXIIIA2 locus is polymorphic and shows three commonly occurring phenotypes, FXIIIA2 1, FXIIIA2 2-I, and FXIIIA2 2. These are determined by two common alleles, FXIIIA2^*1 and FXIIIA2^*2, with respective frequencies of 0.7965 and 0.2035 in the Japanese population. The studied population conforms to a Hardy-Weinberg equilibrium, and family data confirmed autosomal codominant transmission. The FXIIIA3 locus is monomorphic.     

Linkage relationships of six enzyme Loci in interspecific sunfish hybrids (genus lepomis)

Backcross hybrids produced from the bluegill, the red-ear sunfish, and their F₁ interspecific hybrid have been analyzed for the inheritance of six enzyme phenotypes. Malate dehydrogenase A and B, tetrazolium oxidase, 6-phosphogluconate dehydrogenase, skeletal muscle esterase, and liver α-glycerophosphate dehydrogenase are all inherited in a mendelian manner as codominant alleles at nuclear loci. 6-phosphogluconate dehydrogenase and α-glycerophosphate dehydrogenase are encoded by linked loci, undergoing recombination at a frequency of 15%-22%. No other case of linkage was observed. The absence of linkage between the homologous malate dehydrogenase loci is of particular interest. These interspecific hybrids appear to be very useful for studies of biochemical genetics.     

Genetic studies of serum transferrins of free-ranging rhesus macaques of Cayo Santiago, Macaca mulatta (Zimmerman 1780)

Transferrin phenotypes of plasma from 687 semi-free-ranging Macaca mulatta living on Cayo Santiago, Puerto Rico, were determined by starch-gel electrophoresis and autoradiography. Fifteen phenotypes, homozygous or heterozygous products of six codominant autosomal alleles, were present in the population. The 687 animals, prior to March 1973, were divided into eight troops plus peripheral males. By March 1, 1973 the size of the population was reduced to 333 animals, consisting of four troops plus peripheral males. The distributions of transferrin phenotypes and allele frequencies were determined for the population of 687 animals and for 287 of the March 1973 population of 333 animals. Gametic ratios of 382 offspring of 126 females were enumerated. Statistical tests of homogeneity and equilibrium were applied to the data. The results of these tests suggest that, with only a few exceptions, the Cayo Santiago macaques, although divided into social groups, form a single population, and the results are in accord with behavioral observations. The authors suggest that the data on transferrins provide a good baseline for future genetic and ethological studies of evolutionary processes in a population of nonhuman primates.     

A genetically controlled lactate dehydrogenase variant at the B locus in mink

Erythrocytes of 119 mink, and tissue extracts of three mink, were examined for electrophoretic patterns of lactate dehydrogenase (LDH). A variant was detected at the B locus. There are two alleles, LDH-B ^a and LDH-B ^b; three phenotypes, LDH-Ba, LDH-Bab, and LDH-Bb; and three genotypes, LDH-B ^a/LDH-B^a, LDH-B^a/LDH-B^b, and LDH-B ^b/LDH-B^b. The inheritance as observed in 24 families agrees with an autosomal, codominant, two-allele system at the LDH B locus.Supported by National Research Council Grant A-4442 and the Ontario Department of Agriculture and Food.     

Urinary pepsinogen isozymes: A highly polymorphic locus in man

Summary A genetic analysis of human urinary pepsinogen isozymes is presented. Nine discrete phenotypes were identified in a population survey of 215 unrelated Caucasian individuals. The phenotypes were characterized by differences among the staining intensities of the activated group I pepsinogens, Pg 5, Pg 4, Pg 3, and Pg 2. The genetic studies demonstrated that the codominant expression of four alleles, Pg ^A, Pg ^B, Pg ^C and Pg ^D, at a single genetic locus determined the nine phenotypes identified. Linkage analysis excluded close linkage of the Pg locus with the chromosome 6 markers HLA, GLO ₁, and Bf.     

Biochemical and genetic characterization of the lowell variant. A new phenotype of 6-phosphogluconate dehydrogenase

Summary A new electrophoretic variant of 6-phosphogluconate dehydrogenase (6PGD) has been detected in the Caucasian population in North Carolina, and family studies have shown this variant to be transmissible. This variant has been given the trivial name Lowell and the allele controlling its synthesis in conjunction with 6PGD ^A has been named 6PGD ^L . The banding pattern produced by the Lowell variant after electrophoresis is not affected by either NADP or 2-mercaptoethanol. Inhibition studies with urea and iodoacetate have shown that this variant is inhibited to approximately the same degree as the Richmond and Friendship variants. Thermostability studies have shown that the isozyme bands encoded by 6PGD ^A , 6PGD ^Elcho , 6PGD ^C , and 6PGD ^L have a relative thermal stability in the order 6PGD ^A >6PGD ^Elcho >6PGD ^C >6PGD ^L .     

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.     

Carbonic anhydrase isoenzymes in nine troops of Kenya baboons, Papio cynocephalus (Linnaeus 1766)

The distributions of alleles at the carbonic anhydrase I (CA I = CA B) and carbonic anhydrase II (CA II = CA C) loci in nine troops of Papio cynocephalus were determined. Two alleles were found at the CA I locus, and three at the CA II locus; the frequencies were: CA I^a = 0.856; CA I^b = 0.144; CA II^a = 0.784; CA II^b = 0.209; CA II^c = 0.007. Results of tests for Hardy-Weinberg equilibrium, homogeneity tests, and calculations of migration rates were used in support of the interpretation that migration and genetic drift may affect the distribution of alleles at the CA I locus and that selection is the process responsible for the distribution of alleles at the CA II locus.     

Variation,geographical distribution and genetical analysis of esterase isozymes in foxtail millet,Setaria italica (L.) P. Beauv.

Summary The esterase isozymes of 432 strains of foxtail millet, Setaria italica (L.) P. Beauv., collected from different areas throughout Eurasia, were investigated by gel isoelectric focusing. Five phenotypes were recognized, based on the combination of five major activity bands. Cross experiments among different phenotypes revealed these isozymes to be controlled by two codominant alleles and a null allele on the locus, Est-1, and three codominant alleles on another independent locus, Est-2. On locus Est-1, 388 strains had Est-1 ^a, 41 had Est-1 ^b and three had Est-1 ^null alleles. Est-1 ^a was widely distributed throughout Eurasia, while the distribution of Est-1 ^b and Est-1 ^null was distinctly restricted. On locus Est-2, 417 strains had Est-2 ^a, nine had Est-2 ^b and six had Est-2 ^c alleles. Est-2 ^a was widely distributed throughout Asia to Czechoslovakia, but was not detected in the western part of Europe. Est-2 ^b was found in all of the strains from the western part of Europe and in one of the Indian strains. Est-2 ^c was rarely found in Japan and China. The distribution of Est-2 ^a and -2 ^b might indicate some degree of phylogenetic differentiation between the Asian and the European strains. Polymorphism in both loci was observed only in Chinese strains.Contribution No. 30 from the Plant Germ-plasm Institute, Faculty of Agriculture, Kyoto University, Kyoto, Japan     

6-phosphogluconate dehydrogenase in the housefly,Musca domestica L.: Evidence for inheritable 6PGD polymorphism

Two electrophoretic variants of the 6-phosphogluconate dehydrogenase (6 PGD) enzyme have been found in the WHO/IN/Musca domestica/l housefly laboratory strain. The patterns shown by Cellogel zone electrophoresis can be fully explained by the hypothesis of two codominant autosomal alleles. On this hypothesis, a specific Pgd locus has been postulated and the symbols PgdA and PgdB have been assigned to the two alleles causing the PGD-A and PGD-B phenotypes. The bands corresponding to the homozygous phenotypes PGD-A and PGD-B have different electrophoretic mobility and staining intensity; they can be described, respectively, as "fast-weak" and "slow-thick." The heterozygous phenotype PGD-AB gives a three-banded pattern, indicative of a dimeric structure for this enzyme; this pattern is asymmetrical. Heterozygous flies have been found both among wild-type strains of recent colonization and among old established laboratory colonies. Most strains are PgdB monomorphic; up to now only three strains have been PgdA monomorphic, all of them being multimarker strains. The Pgd locus has been traced to the housefly linkage group III.     

Genetic polymorphism of the B subunit of human coagulation factor XIII: Another classification

Summary Genetic polymorphism of the B subunit of human coagulation factor XIII was studied using agarose gel isoelectric focusing (pH 4–6.5) followed by immunofixation. Factor XIII-B of all samples after desialylation was classified into three types (F, S, and FS). From results of the present study, it was confirmed that factor XIII-B was controlled by two codominant alleles on an autosomal locus. Allele frequencies of F-XIIIB ^F and F-XIIIB ^S in a Japanese population were 0.336 and 0.664, respectively.     

Distribution of erythrocytic allozymes in two sibling species of greater galago [Galago crassicaudatus E. Geoffroy 1812 and G. garnettii (Ogilby 1838)]

This study investigated the use of erythrocyte enzymes as indicators of the presence or absence of gene flow between the sibling species G. crassicaudatus and G. garnettii. Fifty-five animals deriving from 14 different source populations were included in the analyses. In addition to hemoglobin, eight enzyme systems were examined: acid phosphatase, adenylate kinase, carbonic anhydrase II, esterase D, glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, peptidase A, and peptidase B. of these, adenylate kinase, glucose-6-phosphate dehydrogenase, hemoglobin, peptidase A, and peptidase B showed no interspecific or intraspecific variation. Esterase D was polymorphic in certain populations of G. crassicaudatus but not in others or in G. garnettii. Acid phosphatase and 6-phosphogluconate dehydrogenase were polymorphic in G. garnettii but monomorphic in all G. crassicaudatus populations. The taxa showed fixation for different alleles at the carbonic anhydrase II locus, indicating a lack of gene exchange between the taxa. We suggest that acid phosphatase, 6-phosphogluconate dehydrogenase, and carbonic anhydrase II may be used as genetic markers in the identification of these two taxa.     

Genetic polymorphism of human factor I (C3b inactivator)

Summary Genetic polymorphism of human factor I (C3b inactivator) has been described using polyacrylamide gel isoelectric focusing electrophoresis of neuraminidase-treated EDTA plasma samples followed by electrophoretic blotting technique. In 435 individuals three different common patterns were observed, and these were controlled by two common alleles at a single locus. The results of typing family material confirmed autosomal codominant Mendelian inheritance. Two common alleles were designated FI^*B and FI^*A, and gene frequencies were estimated to be 0.8931 and 0.1069 for FI^*B and FI^*A, respectively. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. Linkage studies failed to show close linkage between factor I and the major histocompatibility complex.     

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-phosphogluconate 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 χ² was significant (<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 cross-overs), 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.