Physiological effects of an allozyme polymorphism: Glutamate-pyruvate transaminase and response to hyperosmotic stress in the copepod Tigriopus californicus

In order to regulate cell volume during hyperosmotic stress, the intertidal copepod Tigriopus californicus, like other aquatic crustaceans, rapidly accumulates high levels of intracellular alanine, proline, and glycine. Glutamate-pyruvate transaminase (GPT; EC 2.6.1.2), which catalyzes the final step of alanine synthesis, is genetically polymorphic in T. californicus populations at Santa Cruz, California. Spectrophotometric studies of homogenates derived from a homozygous isofemale line of each of the two common GPT alleles indicated that the GPT^F allozyme has a significantly higher specific activity than the GPT^S allozyme. Under conditions of hyperosmotic stress, individual adult copepods of GPT^F and GPT^F/S genotypes accumulated alanine, but not glycine or proline, more rapidly than GPT^S homozygotes. When young larvae were subjected to the same hyperosmotic conditions, GPT^S larvae suffered a significantly higher mortality than GPT^F or GPT^F/S larvae. These results suggest that the biochemical differences among GPT allozymes result in specific physiological variation among GPT genotypes and that this physiological variation is manifested in differential genotypic survivorships under some naturally occurring environmental conditions.This work was supported in part by a grant from the Lerner Fund for Marine Research of the American Museum of Natural History, an NIH Training Grant in Integrative Biology, and NIH Grants GM 28016 and GM 10452.     

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 study in Greek Sarakatsans. I. Blood groups and enzyme polymorphisms

A random sample from the endogamic population of Greek Sarakatsans has been studied for eight blood groups, eleven enzymic genetic systems and haemoglobin variants. The allelic frequencies of the polymorphic loci have been compared with those of other samples from the Greek mainland and other European populations. The Sarakatsans tend to resemble their neighbours. The comparison with European populations indicates that the Sarakatsans have gene frequencies similar to other Mediterranean and European populations. However, the monomorphism of the Kell system, the low frequency of the ACP^*B, AK^*1 and GLO^*1 allelas and the high frequency of the ACP^*C, ESD^*1 and GPT^*1 alleles, are some of the distinguishing features of Sarakatsans. Furthermore, the Sarakatsans are not a high risk population for G6PD deficiency and haemoglobinopathies.     

Glutamic pyruvic transaminase and esterase D types in the Asian-Pacific area

Summary More than 11000 blood samples have been examined for glutamicpyruvic transaminase (GPT) and almost 9000 for Esterase D (EsD) in the Asian-Pacific area; GPT ³ and GPT ⁶ were detected in several population groups in New Guinea, Singapore and some Pacific islands. No previously undescribed alleles were found in either system.     

Population genetics of soluble glutamic-pyruvic-transaminase in North Germans (Lübeck)

Summary The soluble glutamic-pyruvate-transaminase activity in 103 mother-child combinations and 374 randomly selected individuals from a North German population was examined. The frequency of GPT¹ was found to be slightly higher than that of GPT², but this is in accordance with the various other German population groups. Investigation of mother-child combinations supports the assumption that GPT¹ and GPT² are dimers, i.e. each being composed of two identical subunits.

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Zusammenfassung Es wurde die Aktivität der löslichen Glutamat-Pyruvat-Transaminase bei 103 Mutter-Kind-Kombinationen und 374 auslesefrei gewonnenen Individuen einer norddeutschen Bevölkerung untersucht. Die Häufigkeit von GPT¹ ist etwas größer als die von GPT²; das stimmt mit den übrigen bisher untersuchten deutschen Bevölkerungsstichproben überein. Die Mutter-Kind-Kombinationen unterstützen die Auffassung, GPT¹ und GPT² seien Dimere, d. h. jeweils aus zwei identischen Untereinheiten zusammengesetzt.

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This study was carried out in 1972/73 during the author's tenure at the Medizinische Hochschule in Lübeck, West Germany.     

Untersuchungen zum GPT-System unter besonderer Berücksichtigung des stummen Allels GPT0

Zusammenfassung Von 4208 nichtverwandten freiwilligen Blutspendern aus Hessen wurden die GPT-Phänotypen bestimmt und folgende Genfrequenzen errechnet: GPT¹=0,5228; GPT²=0,4737; GPT³=0,0035.Bei der Untersuchung von 108 Familien mit 159 Kindern ergab sich keine Abweichung von der Erbregel.Eine im Rahmen der Familienuntersuchungen zunächst als entgegengesetzte Homozygotie von Mutter und Kind imponierende Diskrepanz konnte durch den Nachweis eines stummen Gens (GPT⁰) abgeklärt werden.Die derzeit vorliegenden Ergebnisse über den GPT-Polymorphismus werden im Hinblick auf dessen Einführung in die forensische Vaterschaftsbegutachtung diskutiert.

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Studies on the GPT system, with special reference to the silent gene GPT⁰

Summary The GPT phenotypes were determined in 4208 non-related voluntary blood donors in Hessen. The following gene frequencies were calculated: GPT¹=0.5228; GPT²=0.4737; GPT³=0.0035.In a study of 108 families with 159 children no exceptions to the laws of inheritance were observed.In this family study one discrepancy, at first assumed to be a mother/child incompatibility (opposite homozygosity) proved to be due to a silent gene (amorph), GPT⁰.The results published on GPT polymorphism hitherto are discussed, with special reference to its implications for the assessment of paternity in forensic medicine.

     

Distribution of blood groups among indians in South America. VI. In Paraguay

This paper on the distribution of hereditary factors in the blood of Indians in South America, reports the results of tests made on samples procured from Paraguayan Indians. Specimens from putatively full-blood persons were obtained from the following tribes: 88 Chamacoco, 36 Moro, 85 Chulupi, 207 Lengua, 100 Toba, 20 Yam Lengua, and 51 Guayaki, These 587 Samples were tested for factors in the A-B-O, M-N-S-s, P. Rh-Hr, Lutheran, Kell-Cellano, Lewis, Duffy, Kidd, and Diego systems. Serum samples were tested for haptoglobins and transferrins. He molysates, prepared from whole blood, were tested for hemoglobin types. The results are presented on appropriate tables as number and per cent of phenotypes for the various blood group antigens and their calculated allele frequencies. Locations of the populations from which blood samples were procured are listed on the tables and shown on a map (fig. 1). Of the 587 samples all except two Chamacoco belonged to group O. High frequencies are reported generally for M, s, P, R¹ (CDe), R² (cDE), k (100%) and Fy alleles in Paraguayn Indians. Low frequencies were generally reported for N, S, r (cde) and R° (cDe) alleles. There was a wide variation in frequencies for Di, Jk, and haptoglobin Hp¹. All tested for transferrins were classified as Tf C and all contained hemoglobin (A) as a major component. The following antigens were completely absent: Mi^a, Vw, p, P^k, r^y (CdE), K, and Le¹. Most notable is the unusual distribution of hereditary blood antigens among the Guayaki and Moro. The Guayaki had 100% P₁ and Fy^a; they were higher in R° (cDe), R¹ (CDe), and Jk^a; and lower in R² (cDE) and Hp¹ genes than other Indians; and Di was absent. The Guayaki differed from the other Indians also in having fair skin. The Moro were lower in the P¹ and Jk gene frequencies than is usually found in Amerinds, and the Di gene was absent. The Chamacoco also had an exceptionally low frequency for the P¹ gene (0.261).     

Polymorphismus der menschlichen Erythrocyten-Glutamat-Pyruvat-Transminase

Zusammenfassung Bei einer Stichprobe nichtverwandter Personen aus der Bevölkerung von Berlin (West) wurden folgende GPT-Frequenzen gefunden: GPT¹ 0,512, GPT² 0,484, GPT³ 0,004. Dieses Ergebnis stimmt mit anderen Untersuchungen aus Deutschland gut überein.

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Polymorphism of the human red cell glutamate-pyruvate transaminase

Summary In a random population sample in Berlin (West) the following GPT-Frequencies were found: GPT¹ 0.512, GPT² 0.484, GPT³ 0.004. This is consistent with other results obtained in German 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.     

Electromyography of pongid shoulder muscles II. Deltoid, rhomboid and "rotator cuff"

Red cell antigen, serum protein and red cell enzyme groups were determined for a series of 1,821 individuals belonging to six language families in Western New Guinea. Three of the language families represent groupings of languages spoken by people in the swampy coastal plain of south central Western New Guinea, two belong to the Central Highlands and one to the Lake Plain area near the confluence of the Idenburg and Rouffaer Rivers. The distribution of genetic markers reveals similarities with other parts of New Guinea. The A₂ allele is absent in the ABO system, the frequency of Ns in the MNS system is very high as is the R₁ (CDe) allele in the Rh system. Hp¹ frequencies are high, and the transferrin allele Tf^D 1 is present as in other parts of New Guinea. In the red cell enzyme systems several alleles were detected which are characteristic of Papuan, and in some cases other Melanesian populations: these include MDH³, PGK⁴, PGK², PGM⁹₂, PGM¹⁰₂, as well as some very restricted alleles such as Peptidase B⁶ and Pep B². Three indices of genetic distance were computed. The most striking results are the genetic closeness of the Dani and Moni populations from the Central Highlands to the Asmat on the southern coastal plain, and the relative remoteness of the Awyu from the other south coastal populations. The results are discussed in terms of recent theories on the origin and dispersal of Papuan languages.     

Distribution of transferrin phenotypes in selected troops of Kenya baboons

The distribution of transferrin alleles in a group of common baboons, Papio cynocephalus of East Africa, was determined after starch gel electrophoresis of plasma and autoradiography of electrophoretograms. Three alleles, Tf^A, Tf^B, and Tf^C, were found, in agreement with results previously reported. The frequencies of these alleles are Tf^A = 0.276, Tf^B = 0.515, Tf^c = 0.209. The difference between the frequencies reported here and those reported by Buettner-Janusch (1963 Folia Primat., 1: 73–87) for the same species (Tf^A = 0.205, Tf^B = 0.332, Tf^c = 0.463) is significant. Transferrin of P. cynocephalus contains four residues of sialic acid per molecule of transferrin, as determined by electrophoresis and autoradiography of plasma treated with neuraminidase.     

Distribution of hereditary blood groups among indians in South America. VII. In Argentina

This seventh and last paper in a series on the distribution of blood groups among Indians in South America reports the findings among Amerinds in Argentina. Blood specimens were procured from putative full-bloods of the following tribes: 38 Diaguita (Calchaqui), 230 Mataco, 90 Chiriguano, 142 Choroti, 51 Toba, 120 Chané, 96 Chulupi (Ashluslay), and 178 Araucano (Mapuche). These 945 samples were tested for blood factors in the A-B-O, M-N-S-s, P, Rh-Hr, K-k, Lewis, Duffy, Kidd, and Diego systems. Serum samples were tested for haptoglobins and transferrins. Hemolysates prepared from whole blood were tested for hemoglobin types. The results are presented in tables as phenotype distribution and calculated allele frequencies. Locations of the populations from which blood samples were procured are shown on a map of North and Central Argentina. High frequencies are reported for the O allele. Allele frequencies are high also for M, s, R¹ (CDe), R² (cDE), k, Le^H and Fy. They are usually low or absent for alleles B, N, S, Mi^a, Vw, R^o (cDe), r (cde), K, Le¹, and fy. The Di allele ranged from 0.013 in the Araucano (Mapuche) to 0.192 in the Toba. Allele frequencies aberrant for Indians were observed more often in the Araucano (Mapuche) and Diaguita tribes, due probably to greater inflow of non-Indian genes into their gene pool and perhaps also to genetic drift in small inbred populations. Hp¹ allele frequencies varied from 0.43 in the Choroti to 0.80 in the Diaguita. All samples tested for transferrins except six contained the variant Tf C; the six were B₁ C present in samples from one Mataco and six Araucano persons. All the specimens tested electrophoretically for hemoglobin types contained only (A) as a major component.     

Human transferrin (Tf) and group-specific component (Gc) subtypes in Tunisia

Summary Simultaneous subtyping of two genetic markers—group-specific component (Gc) and transferrin (Tf)—by electrofocusing enabled us to compute the following gene frequencies for the Tunisian population: Gc ^IS .0.525; Gc ^IF , 0.260; Gc ², 0.215; Tf ^CI , 0.770; Tf ^C2 , 0.215; Tf ^D1 , 0.015.The frequencies of Tf ^D , Tf ^C2 , and Gc ¹ are higher than those found in Caucasoid populations and can be explained by Negroid contribution. A selective advantage related to the metabolic role of this vitamin D-binding protein does not seem very likely for any particular Gc type or subtype. It is postulated that the differences in the frequencies of the Gc alleles might be related to selective advantage for genes belonging to other genetic systems originally closely linked to either Gc ¹ or to Gc ² alleles.This work was supported in part by the Faculté de Pharmacie et de Médecine Dentaire of Monastir and by a grant from the Ambassade de France in Tunisia     

Distribution of hereditary blood groups among Indians in South America. II. In Peru

Blood specimens were procured from the following putatively pure Indians of the Peruvian rain forest: 90 Piro and 89 Campa on the Urubamba and Tambo rivers, 142 Shipibo and 14 Isconahua on the Rio Ucayali near Yarinacocha, 151 Aguaruna at Santa Maria de Nieva, where the Marañon and Nieva rivers join, and from 122 Ticuna and 9 Yagua near the Brazilian border on the Amazon. Specimens from highland Indians were obtained from 93 Aymará and 181 Quechua at Puno and environs. These 891 specimens were tested for antigens in the A-B-O, M-N-S-s, P, Rh-Hr, Lutheran, K-k, Lewis, Duffy, Kidd, and Diego (Di^a) systems, and for the Wright (Wr^a) aglutinogen. Serum samples from these bloods were tested for haptoglobins and transferrins and hemolysates were prepared and examined for hemoglobin types. Results for these tests with claculated gene frequencies are presented, for the most part, on appropriate tables. A map is included to show the locations of the populations from which blood samples were procured. As in South American Indians generally, frequencies are high for the O gene it being the only gene of the ABO system which appears in isolated jungle populations and the Aymará. Gene frequencies are usually high also for M, s, R¹ (CDe), R² (cDE), Lu^b, k, Le^H, and Fy^a; and low or absent for A, B, N, S, Mi^a, Vw, R^o (cDe), r (cde), Lu^a, K, Le¹, Fy^b, and Wr^a. The Diego (Di^a) gene is present but varies greatly in frequencies among tribes. Hp¹ gene frequencies vary from 0.44 to 0.69 among the Peruvian Indians tested. Transferrin CD was encountered in only one population i.e., in 3 of 86 Piro (gene frequency Tf^D= 0.02). All others were C. All Peruvian Indian bloods tested electrophoretically contained only hemoglobin (A) as a major component.     

Rare phenotypes of the phosphoglucomutase locus 1 detectable by isoelectric focusing on Cellogel

Summary The rare phenotypes PGM₁, determined by alleles PGM ₃ ¹ , PGM ₄ ¹ , PGM ₆ ¹ , and PGM ₇ ¹ were examined by starch gel electrophoresis and cellulose acetate gel isoelectric focusing and were compared with the commonest phenotypes of PGM₁.The frequencies of the rare genes found in the Polish populations were as follows: in Lublin, PGM ₃ ¹ =0.0002, PGM ₄ ¹ =0.0005, PGM ₆ ¹ =0.0010, and PGM ₇ ¹ =0.0005; in Wroclaw, PGM ₃ ¹ =0.0000, PGM ₄ ¹ =0.0005, PGM ₆ ¹ =0.0007, and PGM ₇ ¹ =0.0002.The results suggest that the F and S type variants of the genes PGM ₄ ¹ and PGM ₇ ¹ probably do not occur. It is still possibile that F and S variants exist for the genes PGM ₃ ¹ and PGM ₆ ¹ .     

The geographic distribution of flavone-glycosylating genes in Silene pratensis (Rafn.) Godron and Gren. (Caryophyllaceae)

In Silene pratensis three loci (g, gl and fg) control the glycosylation of isovitexin. Three alleles are known for both the g-locus (g, g ^G and g ^X ) and the gl-locus (gl, gl ^A and gl ^R ); for the fg-locus there are only two alleles (fg and Fg). The distribution of these alleles over 285 European populations of S. pratensis has been investigated. It was concluded that there are three different chemical races within S. pratensis in Europe. The first race contains the populations in western and southern Europe and displays high frequencies of g ^G , gl and fg. The frequencies of g ^G and gl ^R are very high in the second chemical race, which can be found in the USSR, Scandinavia and eastern Poland. The third chemical race occurs in central Europe and in this race the frequencies of both g and gl ^R are high, Fg has low to moderate frequencies in the second and third groups. The alleles gl ^A and g ^X are seldom found in S. pratensis, but are present in the closely related S. dioica. They do occur with low frequencies in some populations of S. pratensis, possibly as a result of hybridization with S. dioica.     

Temporal variation in coat colour (genotypes) supports major changes in the Nordic cattle population after Iron Age

Variation in coat colour genotypes of archaeological cattle samples from Finland was studied by sequencing 69 base pairs of the extension locus (melanocortin 1‐receptor, MC1R) targeting both a transition and a deletion defining the three main alleles, such as dominant black (E^D), wild type (E⁺) and recessive red (e). The 69‐bp MC1R sequence was successfully analysed from 23 ancient (1000–1800 AD) samples. All three main alleles and genotype combinations were detected with allele frequencies of 0.26, 0.17 and 0.57 for E^D, E⁺ and e respectively. Recessive red and dominant black alleles were detected in both sexes. According to the best of our knowledge, this is the first ancient DNA study defining all three main MC1R alleles. Observed MC1R alleles are in agreement with calculated phenotype frequencies from historical sources. The division of ancient Finnish cattle population into modern Finnish breeds with settled colours was dated to the 20th century. From the existing genotyped populations in Europe (43 breeds, n = 2360), the closest match to ancient MC1R genotype frequencies was with the Norwegian native multicoloured breeds. In combined published genotype data of ancient (n = 147) and genotypes and phenotypes of modern Nordic cattle (n = 738), MC1R allele frequencies showed temporal changes similar to neutral mitochondrial DNA and Y‐chromosomal haplotypes analysed earlier. All three markers indicate major change in genotypes in Nordic cattle from the Late Iron Age to the Medieval period followed by slower change through the historical periods until the present.     

The distribution of Gc subtypes among the Mongoloid populations

The polymorphism of Gc (group-specific components) has been investigated for a series of 3,160 individual samples from 11 Mongoloid populations in Asia and North and South America by isoelectric focusing on polyacrylamide gels. The samples fall into six Gc phenotypes which can be explained by the three common alleles, Gc^1F, Gc^1S, and Gc², together with several variant phenotypes explained as the heterozygotes for the three common alleles. The distribution of Gc^1F suballele appears to be considerably different from population to population among Mongoloids, ranging from 0.105 (Machiguenga Indans, Peru) to 0.609 (Kadazan, Borneo). A clear geographic cline from Southeast Asia into South America in Gc^1F allele was observed in the populations. In general, Gc^1F allele frequencies are lower in European populations and higher in African populations. The range of variability in the Gc^1F values observed among the Asiatic populations is between the Africans and the Europeans.     

Genetics of glucose phosphate isomerase and phosphoglucomutase in Aedes albopictus (diptera: culicidae)

Summary Glucose phosphate isomerase (E.C. 5.3.1.9) and phosphoglucomutase (E.C. 2.7.5.1) were found to be polymorphic in a laboratory colony of Aedes albopictus. The glucose phosphate isomerase locus is represented by two alleles resulting in three genotypes, while the phosphoglucomutase locus is represented by at least five alleles giving rise to a total of 15 genotypes. The inheritance of these two enzymes is of the Mendelian type with codominant alleles. Present data indicate that these genes are not linked.Of 105 mosquitoes analysed for these two gene-enzyme systems, the frequencies for glucose phosphate isomerase alleles are Gpi ^S=0.68 and Gpi ^F=0.32, while the frequencies for phosphoglucomutase alleles are Pgm ^A=0.16, Pgm ^B=0.11, Pgm ^C=0.19, Pgm ^D=0.30 and Pgm ^F= 0.24. The frequencies of the three glucose phosphate isomerase genotypes are in accord with Hardy-Weinberg expectations (X ₁ ² =2.74). Similarly, the frequencies of the 15 phosphoglucomutase genotypes probably do not differ significantly from Hardy-Weinberg expectations (X ₁₀ ² = 18.45).     

Electrophoretic and heat-stability polymorphism at the phosphoglucomutase (Pgm) locus in natural populations of Drosophila melanogaster

Genetic polymorphism for electrophoretic and heat-sensitive alleles is known at the phosphoglucomutase (Pgm) locus in Drosophila melanogaster. Analysis of the distribution of electrophoretic and thermosensitive (ts) alleles was carried out in natural populations from Canada and West Africa and compared with already known data on Italian populations [Trippa, G., Loverre, A., and Catamo, A. (1976). Nature 260:42]. The data show the existence of five common alleles, Pgm ^1.00,tr, Pgm ^1,00,ts, Pgm ^0.70,ts, Pgm ^1.20,ts, and Pgm ^1.50,tr, and two rare alleles, Pgm ^0.55,ts and Pgm ^1.20,tr. The most frequent allele is always Pgm ^1.00,tr; the second most common allele is always of the ts type. The cumulated frequencies of ts alleles in the populations varies between 11 and 32%. The heat stability polymorphism is present in all populations examined and shows again the uniform geographic pattern that has been found for electrophoretic variation at this locus.This research was partially supported by an operating grant (to G.R.C.) from the Canadian National Science and Engineering Research Council (NSERC).