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.     

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.     

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.     

Erythrocyte G-6-PD and 6-PGD genetic polymorphisms in South African Negroes,with a note on G-6-PD and the malaria hypothesis

Summary Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screned for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geographic co-distribution and interrelationship of G-6-PD deficiency and the occurrence of malaria in South Africa.     

The occurrence of G-6-PD union in Thailand

Summary Partially purified G-6-PD from 4 deficient Thai males presenting with acute hemolytic anemia showed low Km G-6-P consumption, and very high consumption of 2d G-6-P, Gal-6-P, and dTPN. DPN consumption was zero. The enzyme had very biphasic pH optimum curve and very low heat stability. Electrophoretic mobility was 103–106% of normal. These properties are very similar to those of G-6-PD Union. The enzyme of these 4 subjects is thus named G-6-PD Union (Thai).

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Zusammenfassung Teilweise gereinigtes G-6-PD von 4 Thai-Männern, die wegen einer hämolytischen Anämie zur Behandlung kamen, zeigten eine niedrige km G-6-P, dagegen hohe 2d G-6-P, Gal-6-P und dTPN-Utilisation. DPN-Utilisation was O. Das Enzym zeigte eine starke biphasische pH-Optimum-Kurve und sehr geringe Hitzestabilität. Die elektrophoretische Wanderungsgeschwindigkeit war 103–106% des Normalen. Diese Eigenschaften sind sehr ähnlich denen des G-6-PD-Union. Deshalb wird das Enzym dieser drei Personen als G-6-PD-Union (Thai) bezeichnet.

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Supported by U.S. Public Health research grant AM 09805 from the National Institute of Arthritis and Metabolic Diseases and research grant no G3/181/74 from the World Health Organization.     

Three rare G-6-PD variants from Porto Alegre,Brazil

Summary Studies in 772 children and their mothers living in Porto Alegre, Brazil, disclosed three rare G-6-PD phenotypes. The first, observed in a dark mulatto, is probably identical to a variant previously found in Northeastern Brazil and was named Gd Minas Gerais-like; a white boy of German ancestry showed what seems to be Seattle-like; and a white man of Portuguese ancestry presented a previously undescribed variant that is being called Gd Porto Alegre. The allele responsible for Gd Minas Gerais may be more prevalent in Brazilian populations than was previously thought. Its estimated frequency in 214 black males from Porto Alegre is 0.005.     

G-6-PD polymorphism and racial admixture in the Cuban population

Summary Esterase D phenotypes were determined in 1082 non-related individuals from the western region of Germany by agarose-gel electrophoresis. Gene frequencies were compared with previous data and all European populations studied so far agreed with the Hardy-Weinberg equilibrium. Mean gene frequencies for Europeans are: EsD ¹ 0.8888, EsD ² 0.1112.     

Polish variant of glucose-6-phosphate dehydrogenase (G-6-PD lublin)

Summary A new, favism-inducing variant of glucose-6-phosphate dehydrogenase in erythrocytes is described in a Polish family. The enzyme activity has been 0–4% of normal. The enzyme displayed normal heat stability, electrophoretic mobility 105–110% of normal, K_m for NADP: 16–22 M, K_m for G-6-P: 26 M, and the utilization of 2-deoxy-G-6-P: 2–3%.     

G-6-PD Poznań, variant with severe enzyme deficiency.

A new variant of G-6-PD with severe enzyme dificiency without chronic hemolysis is characterized. The biochemical properties of the variant closely resemble those of the G-6-PD Ramat-Gan described in a case of chronic non-spherocytic hemolytic anemia. As the family data on linking of chronic hemolysis with Ramat-Gan variant are lacking, the differentiation of the variants on the basis of clinical manifestations is not well-founded.     

G-6-PD polymorphism and racial admixture in the Cuban population.

The frequencies of the Gd-A, Gd-A- and Gd-B alleles have been estimated in a random sample of 455 female and 405 male high school students from Habana. The estimates of the Negro and Caucasian relative contributions to the present genetic make-up of the Habana population, based on these gene frequencies, are 0.20 and 0.80 respectively.