Characteristics of the Gd- alleles discovered in a population check of pupils in the city of Kostroma

The population study of distribution of G-6-PD alleles among normal Russian school-children of Kostroma town was carried out. In total, 952 children were examined, 429 girls and 523 boys (from 7 to 18 years old). The frequency of Gd- alleles is 0.36%. Two Gd- alleles discovered in this study belong to the III class. One of them was characterized according to the WHO programme. This allele designated "Kostroma" has not been described earlier.     

Population study in Assam: ABO blood groups, haemoglobin E and G-6-PD deficiency

An attempt has been made to give a comprehensive picture of occurrence of ABO blood groups, haemoglobin E and G-6-PD deficiency among certain representative populations of the two major racial groups--Mongoloids and Caucasoids--of Assam, India. The qualitative pattern of distribution of ABO gene frequencies shows a clear demarcation between these two major groups. The same is true in respect of HbE gene, too. The Mongoloids present high frequencies of this gene, while among the Caucasoids its frequency is comparatively much lower. With regard to G-6-PD deficiency the distinction between the two groups is not so clear cut, yet some Mongoloid populations show relatively higher incidence of the trait in comparison to that in the Caucasoid populations.     

Red cell glucose-6-phosphate dehydrogenase deficiency and haemoglobin variants among ten endogamous groups of Maharashtra and West Bengal

Summary Over 900 individuals from ten endogamous groups in the Indian states of Maharashtra and West Bengal were studied for G-6-PD deficiency and haemoglobin variants. The incidence of G-6-PD varied from nil to 17.3%, while that of Hb-S varied from nil to 22.3%. In general, the tribal populations of Maharashtra are characterized by the presence of a high incidence of both Hb-S and G-6-PD deficiency. The caste Hindus showed an absence of Hb-S and rather low G-6-PD deficiency. Immigrant Parsis possessed the highest incidence of G-6-PD deficiency (17.3%).     

Cyclic Seasonal Variation of G-6-PD Deficiency in Newborn Infants from Sardinia

Glucose-6-Phosphate Dehydrogenase has been studied in 5267 consecutive newborn infants from Sardinian population during a four years period. The proportion of G-6-PD deficient female infants is much higher in those conceived in the winter-spring than among those conceived in summer-autumn, resulting in a lower sex ratio among G-6-PD deficient infants conceived in winter-spring as compared to G-6-PD deficient infants conceived in the summer-autumn. The overall frequency of the gene for G-6-PD deficiency is much lower in infants conceived in the summer period than in infants conceived in the other seasons. A greater reproductive efficiency of G-6-PD deficient males in the winter-spring season and/or some effect at post zygotic level favouring the survival of heterozygous G-6-PD deficient females conceived in the winter-spring period could contribute to the pattern described. Fresh vegetables containing oxidative substances are more abundant in the spring time. These substances may interact with seasonal reproductive cycles influencing reproduction efficiency of G-6-PD deficient males and/or the relative survival rate of heterozygous female embryos.     

Isolation of mammalian cell mutants deficient in glucose 6-phosphate dehydrogenase by means of a replica-plating technique

Summary A replica-plating technique is described which was used for the isolation of G-6-PD-deficient mutants in cultures of mutagen-treated Chinese hamster cells. Mutants were recognized by their failure to stain in a histochemical G-6-PD-specific staining reaction. Four mutants were isolated and characterized by growth properties, stability of their variant phenotypes, and reduced G-6-PD activity. One of these mutants on electrophoresis exhibited a variant G-6-PD and thus is very likely the result of a mutation in the structural gene for G-6-PD.     

Glucose-6-phosphate dehydrogenase deficiency and colour-vision studies in Indian Muslims

Summary 5 groups of Indian Muslims have been studied for G-6-PD deficiency and colour blindness. It was observed that no colour-blind person was found in Moplahs and Bohras. The incidence of G-6-PD deficiency was 2% in Khojas and mixed Muslim group. Findings are discussed in the light of available data on Indian populations.

---

Zusammenfassung Fünf Gruppen indischer Muslims wurden auf G-6-PD Mangel und Farbenblindheit hin untersucht. Unter Moplahs und Bohras fanden sich keine farbblinden Personen. Unter Khojas und in einer gemischten Muslimgruppe wurde G-6-PD Mangel in einer Häufigkeit von 2% beobachtet. Die Daten werden mit denen der anderen indischen Bevölkerungen verglichen.

     

Frequency of glucose-6-phosphate dehydrogenase, pyruvate kinase and hexokinase deficiency in the Saudi population

The frequencies of glucose-6-phosphate dehydrogenase (G-6-PD), pyruvate kinase (PK) and hexokinase (HK) deficiency were determined in different regions of Saudi Arabia. G-6-PD deficiency was found to range from 0.045 to 0.220 for the male and 0.020 to 0.125 for the female population. The highest frequencies were found to exist in the regions which are endemic to malarial parasite and have high frequencies of sickle cell and thalassaemia genes. Partial deficiencies of PK and HK were encountered in each region, however, no case of complete deficiency of these enzymes was identified. Further investigations are in progress to determine the clinical manifestations of enzyme deficiencies in the Saudi population.     

Frequency of glucose-6-phosphate dehydrogenase deficiency in sickle-cell disease. A study in Saudi Arabia

The frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 50 Hb S homozygotes (SS) and 98 Hb S heterozygotes (AS) was determined and compared with the frequency obtained in individuals with normal haemoglobin (AA). The observed number of SS patients with G-6-PD deficiency was significantly greater than the expected value (p less than 0.05). The frequency of G-6-PD deficiency in AA, AS and SS was found to be 0.172, 0.214 and 0.420, respectively. A statistically significant increase of G-6-PD deficiency was apparent in the Saudi sicklers. The possibility that G-6-PD deficiency and Hb S gene interact, influencing the survival of the carriers of these genetic abnormalities, is discussed.     

G-6-PD and haemoglobin variants among twelve endogamous Dhangar castes of Maharashtra, India

Incidence of haemoglobin variants and G-6-PD deficiency among 1385 males belonging to 12 endogamous Dhangar castes of Maharashtra, India, have been reported. Of the 12 castes studied 11 lacked the allele for G-6-PD deficiency; 2.7% of the Thellaris were found to be deficient. Haemoglobin Hb-D trait is found in 2 of the 12 castes; the incidence among Ahirs and Hatkars being 0.82% and 1.91%, respectively. One case of Hb-J among the Ahirs, and 2 examples of thalassaemia trait, one each among Ahirs and Gadharis, have been detected. The low incidence of observed G-6-PD deficiency and the detection of Hb-D and J traits, as well as thalassaemia have been discussed in the light of the nomadic way of life of some of the Dhangar castes and prevalence of malaria in the region they occupy. The data strongly suggest that the Dhangars arrived in Maharashtra in the recent past from northwest.     

Polymorphism of erythrocyte G-6-PD in the baboon

Blood samples from several populations of baboons (genus Papio) were examined for G-6-PD variants. Several G-6-PD phenotypes were detected by starch gel electrophoresis. The so-called fast variant phenotypes of G-6-PD in baboons differ from human variant phenotypes in several physicochemical constants.     

G-6-PD Jalisco and G-6-PD Morelia: Two new Mexican variants

Summary Two new G-6-PD variants designated G-6-PD Jalisco and G-6-PD Morelia were identified in two unrelated Mexican families. An additional G-6-PD variant was found in each family: G-6-PD trinacria and G-6-PD A^-. In both families compound heterozygotes were identified. G-6-PD Jalisco and G-6-PD Morelia belong to Classes 3 and 4, respectively. G-6-PD Morelia is the first variant from its class with a high Km for NADP and a low Ki for NADPH.     

Characterization of glucose-6-phosphate dehydrogenase in Thailand

Summary Characterization of partially purified eryrhrocyte G-6-PD from 50 enzymedeficient males in 45 unrelated Thai families revealed 6 enzyme variants. Thirty-five subjects in 31 families had G-6-PD variant with normal electrophoretic mobility, slightly low Km G-6-P, normal substrate-analog utilization, normal pH-optimum curve, and slightly increased heat stability. This enzyme variant is called G-6-PD Mahidol.Six subjects had enzyme with fast electrophoretic mobility (106–108% of normal), low Km G-6-P, slightly increased substrate-analog utilization, biphasic pH-optimum curve, and slightly low to normal heat stability. This variant was identical to G-6-PD Canton.Five subjects had G-6-PD with fast electrophoretic mobility (103–106% of normal), low Km G-6-P, very high substrate-analog utilization except for DPN which it did not use as cofactor, markedly biphasic pH-optimum curve and very low heat stability. This variant is called G-6-PD Union (Thai).Two brothers had G-6-PD with normal electrophoretic mobility, low Km G-6-P, slightly increased substrate-analog utilization, biphasic pH-optimum curve and low heat stability. This variant is designated G-6-PD Siriraj.G-6-PD from one patient had slightly fast electrophoretic mobility, increased substrateanalog utilization, especially of DPN, and very low thermal stability. It is called G-6-PD Kan.One subject had G-6-PD with normal electrophoretic mobility, Km G-6-P, pH-optimum curve and heat stability, and increased substrate-analog utilization. This G-6-PD variant is named G-6-PD Anant.G-6-PD Mahidol is far more common than any other known variants in Thailand.

---

Zusammenfassung Eine Charakterisierung von teilweise gereinigtem Erythrocyten-G-6-PD von 50 Männern mit Enzym-Defekt aus 45 nicht miteinander verwandten Thai-Familien ergab 6 Enzym-Varianten. 35 Personen in 31 Familien hatten eine G-6-PD-Variante mit normaler elektrophoretischer Wanderungsgeschwindigkeit, einen leicht verminderten G-6-P-Km-Wert, einer normalen Substratanalog-Verwertung, einer normalen pH-Optimum-Kurve und einer leicht erhöhten Hitze-Stabilität. Diese Enzym-Variante wurde G-6-PD Mahidol genannt.Sechs Personen hatten ein Enzym mit rascher elektrophoretischer Wanderung (106–108% der Norm), niedrigem Km für G-6-P, leicht erhöhter Substrat-Verwertung, einer biphasischen pH-Optimum-Kurve und normaler bis leicht erniedrigter Hitzestabilität. Diese Variante ist identisch mit G-6-PD Canton.Fünt Personen hatten G-6-PD mit rascher elektrophoretischer Wanderung (103–106%), niedrigem Km G-6-P, sehr hoher Substratanalog-Verwertung—mit Ausnahme von DPN, das nicht als Cofactor wirkte—, einer stark biphasischen pH-Optimum-Kurve und sehr geringer Hitze-Stabilität. Diese Variante wurde als G-6-PD Union (Thai) bezeichnet.Zwei Brüder hatten ein G-6-PD mit normaler elektrophoretischer Wanderung, niedrigem Km G-6-P, leicht erhöhter Substratanalog-Verwertung, einer biphasischen pH-Optimum-Kurve und geringer Hitze-Stabilität. Diese Variante erhielt den Namen G-6-PD Siriraj.G-6-PD eines Patienten hatte eine leicht erhöhte elektrophoretische Wanderungsgeschwindigkeit, eine erhöhte Substratanalog-Verwertung, besonders für DPN, und eine sehr geringe Hitze-Stabilität (G-6-PD Kan).Eine Person zeigte ein G-6-PD mit normaler elektrophoretischer Wanderungsgeschwindigkeit, Km G-6-P pH-Optimum-Kurve und Hitze-Stabilität. Nur die Substratanalog-Verwertung war erhöht. Diese Variante wurde G-6-PD Anant gennant.G-6-PD Mahidol ist die bei weitem häufigste Variante in Thailand.

---

---

This investigation received financial support from the World Health Organization.     

Immunoglobulin synthesis and glucose-6-phosphate dehydrogenase as cell markers in human lymphoblastoid cell lines

Multiple lymphoblastoid cell lines were established from each of seven Burkitt lymphoma biopsies and from tonsils, removed from four patients with chronic tonsillitis. The cellular origin of the lines was studied using as markers the pattern of immunoglobulins secreted into the medium and the cells' glucose-6-phosphate dehydrogenase (G-6-PD) phenotypes.Lines from the same tonsil biopsy differed from each other by their patterns of immunoglobulin synthesis and G-6-PD phenotypes. All tonsil-derived lines secreted complete immunoglobulins. Newly established lines usually produced several heavy and light chain types, indicating multicellular origin, but the number of components produced decreased during the course of long-term cultivation. G-6-PD phenotypes of lines established from the same tonsil removed from a G-6-PD heterozygote differed—B, A and B/A phenotypes were found. The B/A lines rapidly changed to a single enzyme phenotype (B or A) when maintained in culture.The immunoglobulin and G-6-PD phenotypes in lines derived from Burkitt lymphomas differed from those of tonsil lines in several respects: (1) Some lines produced no immunoglobulins; (2) in immunoglobulin-synthesizing lines, the patterns of heavy and light chain production were more restricted than in tonsil lines; (3) after some months in culture, a uniform pattern of immunoglobulin synthesis was found in all lines derived from the same tumour; (4) lines from G-6-PD heterozygotes had the same single enzyme phenotypes as were found in the tumours.The data strongly suggest that most lines from Burkitt lymphomas are derived from the tumour clones and that most tonsil-derived lines have multicellular origin.     

Glucose-6-phosphate dehydrogenase deficiency and sickle cell disease in Brazil.

The frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was determined in 54 male patients with sickle cell diseases: 31 sickle cell anemia (SS), 14 sickle cell hemoglobinopathy (SC) and 9 HbS/beta-thalassemia (S/B-thal) by a combination of quantitative assay, fluorescent spot test and electrophoresis. Of the 54 patients tested, 7 were found to be G-6-PD deficient (G-6-PD-) (3 SS, 3 SC and 1 S/B-thal) and 47 G-6-PD normal (G-6-PD+) (6 G-6-PD A and 41 G-6-PD B). All the deficient patients were G-6-PD A-. The frequency of G-6-PD deficiency did not differ significantly from that observed in the general population. Compared to patients who were not G-6-PD-, there were no significant differences in the hemoglobin concentration and reticulocyte count in patients with sickle cell diseases who were G-6-PD-.     

Glucose-6-phosphate dehydrogenase in the population of northern Thailand: Evidence for two common electrophoretic variants with deficient enzyme activity

Summary Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, identified by a dye decolorization test, was found in 101 (12.5 percent) of 811 male subjects from northern Tailand. Blood samples from 169 subjects with normal G-6-PD activity and from all 101 subjects with G-6-PD deficiency were examined by electrophoresis on cellulose acetate gel with the following results: In all samples with normal G-6-PD activity the enzyme had the electrophoretic mobility of type B G-6-PD. 73 of the 101 G-6-PD deficient samples had the same mobility and are therefore probably identical with the common Mediterranean variant B-. 16 of the 101 deficient samples contained an electrophoretically fast G-6-PD, and 1 sample a slow variant. In 11 deficient samples the enzyme could not be made visible. Kinetic studies on crude hemolysates suggest that the fast variant has a higher mean activity and heat stability in comparison to the B- variant.Established and supported by Stiftung Volkswagenwerk, Hannover.     

Leucocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity in G-6-PD deficient Chinese

The activity of glucose-6-phosphate dehydrogenase (G-6-PD) in leucocytes was studied for erythrocyte G-6-PD deficiency using 49 hemizygous males, 16 heterozygous females, and 19 normal controls. The mean G-6-PD activity in leucocytes of the affected neonates (9.2 +/- 5.4 units) and the children (11.2 +/- 5.3 units) were significantly lower than those of normal newborns (22.9 +/- 5.1 units, P less than 0.01). Seventy percent of the effected newborns and 58% of the children with G-6-PD deficiency had the leucocyte enzyme activity of less than 13 IU/10(9)WBC. The leucocyte enzyme activity (14.6 +/- 8.6 units) of 16 heterozygous G-6-PD deficient mothers was also lower than that of normal controls (23.1 +/- 7.0 units). The present study thus concludes that, in G-6-PD deficient Chinese, the enzyme defect is demonstrable not only in erythrocytes but also in leucocytes.     

Effects of prolactin and androgens on enzymes of carbohydrate metabolism in prostate of castrated bonnet monkeys Macaca radiata (Geoffroy).

Effects of prolactin (PRL), bromocriptine (Br), testosterone propionate (TP), dihydrotestosterone (DHT) and the combinations of these androgens with PRL/Br on the specific activities of caudal and cranial prostatic cellular enzymes involved in carbohydrate metabolism in castrated mature bonnet monkeys have been studied. Castration decreased all the enzymes studied such as hexokinase (HK), 6-phosphofructokinase (6-PFK), glyceraldehyde-3-phosphate dehydrogenase (G-3-PD), pyruvate kinase (PK), glucose-6-phosphate dehydrogenase (G-6-PD) and 6-phosphogluconate dehydrogenase (6-PGD) in the cranial and caudal prostates. PRL elevated the activities of all the enzymes above normal except G-3-PD of cranial lobe. In the caudal lobe, PRL brought back the activities of HK, PFK, PK, G-6-PD to normal and 6-PGD above normal except G-3-PD. TP/DHT treatment increased all the enzymes in both the lobes. PRL given along with TP/DHT further enhanced the androgen action with regard to HK, PK, G-6-PD and 6-PGD of cranial and PFK, G-3-PD, PK, G-6-PD and 6-PGD of caudal lobe. Br treatment did not produce any alteration of these enzymes in both the lobes. In the cranial lobe, during Br+TP/DHT treatment, the stimulating effects of androgen were unaffected on all the enzymes except PK. On the other hand in the caudal, the stimulatory effects of androgens were affected and the activities of HK, PFK, PK and 6-PGD were significantly decreased. The present results suggest that PRL has a direct as well as a synergistic action with androgens on enzymes of EMP and HMP shunt in the prostates of monkeys.     

Zur transspezifischen Variabilität der Glucose-6-Phosphatdehydrogenase (E.C.: 1.1.1.49) der Primaten

Zusammenfassung Bei subhumanen Primaten können auf Grund ihrer unterschiedlichen Wandergeschwindigkeit in der Elektrophorese fünf verschiedene Glucose-6-Phosphatdehydrogenase-Varianten nachgewiesen werden. Die Verteilung dieser Varianten wurde ermittelt.

---

Transspecific variability of glucose-6-phosphate dehydrogenase (E.C.: 1.1.1.49) in Primates

Summary On the basis of their different electrophoretic mobility five Glucose-6-phosphate dehydrogenase variants are detectable in subhuman Primates: G-6-PD D, G-6-PD C, G-6-PD B, G-6-PD E, G-6-PD F. Their distribution in 428 individuals was estimated.

---

---

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Glucose-6-phosphate dehydrogenase polymorphism in the Saudi population

Glucose-6-phosphate dehydrogenase (G-6-PD) exhibits extensive heterogeneity in the Saudi population. The polymorphism of G-6-PD was investigated in different regions of Saudi Arabia, and G-6-PD variants were separated and identified on the basis of their electrophoretic mobility and activity towards glucose-6-phosphate. G-6-PD-B+ was found to be the most common phenotype, G-6-PD-A+ was found in each region but at a variable frequency ranging between 0.007 and 0.046. A second variant with normal activity but lower mobility than G-6-PD-B+ was identified among the Saudis at a frequency ranging from 0.000 to 0.028 in the different regions. In addition, a high frequency of variants with reduced activity was encountered in all regions. In males, a frequency of G-6-PD Mediterranean ranging from 0.046 to 0.261 was obtained, while G-6-PD-A- existed at a frequency ranging from 0.011 to 0.028. Furthermore, other variants with reduced activity but the same electrophoretic mobility as G-6-PD-B+ were detected at a high frequency among the Saudis.     

Human platelet glucose-6-phosphate dehydrogenase. Total purification, kinetic studies and relationship with enzyme from other blood cells.

Human platelet G-6-PD has been highly purified, to homogeneity, and its kinetic, electrophoretic and immunological characteristics have been studied. Platelet G-6-PD differs from erythrocyte or leukocyte enzymes by an increased Michaelis constant for G-6-P and a slow activity at the acid pHs. By electrofocusing only a main active band (band a) of platelet G-6-PD was found. The incubation at 37 degrees C in the presence of NADP+ and dithiothreitol normalize Km-G-6-P of platelet G-6-PD; the incubation with boiled and ultrafiltered leukemic granulocyte extracts led to an anodisation of G-6-PD active forms, a decrease of the molecular specific activity and a further increase of Km-G-6-P; these last modifications are the same as those undergone by G-6-PD incubated in crude extracts of normal or leukemic granulocytes.