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.
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References
Benabadji M, Merad F, Benmoussa M, Trabuchet G, Junien C, Dreyfus JC, Kaplan JC (1978) Heterogeneity of glucose-6-phosphate dehydrogenase dificiency in Algeria. Study in Northern Algeria with description of five new variants. Hum Genet 40:177–184
Beutler E (1982) G-6-PD: Historical perspective and current status. In: Weatherall DJ (ed) Advances in red cell biology. Raven Press, New York, p 297
Beutler E (1983) Glucose-6-phosphate dehydrogenase deficiency. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, p 1629
Beutler E, Yoshida A (1973) Human glucose-6-phosphate dehydrogenase variants: A supplementary tabulation. Ann Hum Genet 37:151–155
Beutler E, Mathai CK, Smith JE (1968) Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease. Blood 31:131–150
Castro GAM, Snyder LM (1974) G-6-PD San José: A new variant characterized by NADPH inhibition studies. Humangenetik 21:361–363
Chockkalingam K, Board PG, Breguet G (1982) Glucose-6-phosphate dehydrogenase variants of Bali Island (Indonesia). Hum Genet 60:60–62
Ermakov NV, Chernyak NB, Tokarev YN (1983) Properties of new variant of glucose-6-phosphate dehydrogenase (Regar variant). Glucose metabolism in erythrocytes containing abnormal enzyme. Biokhimiia 48:577–583
International Committee for standardization in Haematology (1977) Recommended methods for red cell enzyme analysis. Br J Haematol 35:331–340
International Committee for standardization in Haematology (1979) Recommended screening test for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Br J Haematol 43:465–467
Lisker R, Pérez-Briseño, R, Sosa R, Shein M (1976) Aspectos hereditarios y epidemiológicos de la deficienca de glucosa-6-fosfato deshidrogenasa eritrocítica en México. Gac Méd Méx 111:454–458
McCurdy PR, Kamel K, Selim O (1974) Heterogeneity of red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency in Egypt. J Lab Clin Med 84:673–680
Nakatsuji T, Miwa S (1979) Incidence and characteristics of glucose-6-phosphate dehydrogenase variant in Japan. Hum Genet 51:297–305
Panich V (1980) Glucose-6-phosphate dehydrogenase in Thailand. The occurrence of three electrophoretic variants among 1157 nondeficient males. Hum Genet 53:227–228
Reys L, Manso C, Stamatoyannopoulos G (1970) Genetic studies on Southeastern Bantu of Mozambique. I. Variants of glucose-6-phosphate dehydrogenase. Am J Hum Genet 22:203–215
Sansone G, PerroniL, Yoshida A, Dave V (1977) A new glucose-6-phosphate dehydrogenase variant (GdTrinacria) in two unrelated families of Sicilian ancestry. Ital J Biochem 26:44–50
Vaca G, Ibarra B, Hernández A, Velázquez AL, González-Quiroga G, Romero F, Medina C, Zúñiga P, Martínez G, Alvarez-Arratia MC, Cantú JM (1982a) Screening for inborn errors of the erythrocyte metabolism in Northwestern Mexico. Acta Anthropogenet 6:255–264
Vaca G, Ibarra B, Romero F, Olivares N, Cantú JM, Beutler E (1982b) G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. Hum Genet 61:175–176
Weimer TA, Schueler L, Beutler E, Salzano FM (1984) GD (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil. Hum Genet 65:402–404
WHO Scientific Group (1967) Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Tech Rep Ser 366:1–53
Yoshida A (1973) Hemolytic anemia and G-6-PD deficiency. Science 179:532–537
Yoshida A, Beutler E (1978) Human glucose-6-phosphate dehydrogenase variants: A supplementary tabulation. Ann Hum Genet 41:347–355
Yoshida A Beutler E (1983) G-6-PD variants: Another up-date. Ann Hum Genet 47:25–38
Yoshida A, Beutler E, Motulsky AG (1971) Human glucose-6-phosphate dehydrogenase variants. Bull WHO 45:243–253
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Vaca, G., Ibarra, B., García Cruz, D. et al. G-6-PD Jalisco and G-6-PD Morelia: Two new Mexican variants. Hum Genet 71, 82–85 (1985). https://doi.org/10.1007/BF00295674
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DOI: https://doi.org/10.1007/BF00295674