Summary
Glucose-6-phosphate dehydrogenase (G6PD) has been analyzed by gel electrophoresis and by quantitative assay in an unselected sample of 1524 schoolboys from the province of Matera (Lucania) in southern Italy. We have identified 43 subjects with a G6PD variant. Of these, 31 had severe G6PD deficiency, nine had mild to moderate deficiency, and three had a non-deficient electrophoretic variant. The overall rate of G6PD deficiency was 2.6%. The frequency of G6PD deficiency, ranging from 7.2% on the Ionian Coast to zero on the eastern side of the Lucanian Apennines, appears to be inversely related to the distance of each town examined from the Ionian Coast, suggesting that this geographic distribution may reflect, at least in part, gene flow from Greek settlers. Biochemical characterization has shown that most of the G6PD deficiency in this population is accounted for by G6PD Mediterranean. In addition, we have found several examples of two other known polymorphic variants (G6PD Cagliari and G6PD A−): three new polymorphic variants. G6PD Metaponto (class III), G6PD Montalbano (class III), and G6PD Pisticci (class IV); and two sporadic variants, G6PD Tursi (class III) and G6PD Ferrandina (class II). These data provide further evidence for the marked genetic heterogeneity of G6PD deficiency within a relatively narrow geographic-area and they prove the presence in the Italian peninsula of a sene (Gd A−) regarded as characteristically African.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Battistuzzi G, Esan GJF, Fasuan FA, Modiano G, Luzzatto L (1977) Comparison of GdA and GdB activities in Nigerians. A study of the variation of the G6PD activity. Am J Hum Genet 29:31–36
Battistuzzi G, Morellini M, Meloni T, Gandini E, Luzzatto L (1982) Genetic factors in favism. In: Weatherall DJ, Fiorelli G, Gorini S (eds) Advances in red cell biology. Raven Press, New York, pp 339–346
Betke K, Brewer GJ, Kirkman HN, Luzzatto L, Motulsky AG, Ramot B, Siniscalco M (1967) Standardization of techniques for the study of glucose-6-phosphate dehydrogenase. WHO Tech Rep Ser 366:1–53
Beutler E, Mathai CK, Smith JE (1968) Biochemical variant of glucose-6-phosphate dehydrogenase giving rise to congenital Nonspherocytic Hemolitic disease. Blood 31:131–135
Calabrò V, Cascone A, Malaspina P, Battistuzzi G (1989) Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. Haematologica (Pavia) 74:71–73
Carandina G, Moretto E, Zacchi G, Conighi C (1976) Glucose-6-phosphatc dehydrogenase Ferrara. A new variant of G6PD identified in northern Italy. Acta Haematol 56:116–122
Colonna-Romano S, Iolascon A, Lippo S, Pinto L, Cutillo S, Battistuzzi G (1985) Genetic heterogeneity at the glucosc-6-phosphate dehydrogenase locus in southern Italy: a study on the population of Naples. Hum Genet 69:228–232
De Vita G, Alcalay M, Sanpietro M, Cappellini MD, Fiorelli G, Toniolo D (1989) Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet 44:233–240
Fenu MP, Finazzi G, Manoussakis C, Palomba V, Fiorelli G (1982) Glucose-6-phosphate dehydrogenase deficiency: genetic heterogeneity in Sardinia. Ann Hum Genet 46:105–114
Lascaro M (1961) Diffusione della talassemia in provincia di Matera. II Convegno Scientifico Regionale Società Lucana di Medicina e Chirurgia. Matera 1961
Lenzerini L, Meera Khan O, Filippi G, Rattazzi MC, Ray AC, Siniscalco M (1969) Characterization of glucose-6-phosphate dehydrogenase variants. I. Occurrence of a G6PD Seattle-like variant in Sardinia and its interaction with the G6PD Mediterranean variant. Am J Hum Genet 21:142–153
Luzzatto L, Battistuzzi G (1985) Glucose-6-phosphate dehydrogenase. Adv Hum Genet 14:217–329
Perona G, Guidi GC, Tummariello D, Mareni C, Battistuzzi G, Luzzatto L (1983) A new glucose-6-phosphate dehydrogenase variant (G6PD Verona) in a patient with myelodysplastic syndrome. Scand J Haematol 30:407–414
Rickards O, Biondi G, De Stefano GF, Battistuzzi G (1988) Distribution of genetically determined deficient variants of glucose-6-phosphate dehydrogenase (G6PD) in southern Italy. In: Mayr WR (ed) Advances in Forensic Haemogenetics 2. Springer. Berlin Heidelberg, pp 570–573
Tagarelli A, Bastone L, Bria M, Muglia M, De Marco EV, Brancati C (1987) Il deficit di G6PD in provincia di Cosenza: risultati preliminari di uno screening eseguito su circa 20000 soggetti. XXVII Riunione Gruppo per lo studio dell'eritrocita. Siena, 1987
Testa U, Meloni T, Lania A, Battistuzzi G, Cutillo S, Luzzatto L (1980) Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Sardinia. Hum Genet 56:99–105
Van Kampen EJ, Zijlstra WC (1961) Standardization of haemoglohinometry. II. The haemoglobin-cyanide method. Clin Chim Acta 6:538–544
Viglietto G, Montanaro V, Calabrò V, Vallone D. D'Urso M, Persico MG, Battistuzzi G (1990) Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. Ann Hum Gen 54:1–15
Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Poggi V, Giordano R, Town M, Luzzatto L, Persico MG (1988) Diverse oint mutations in the human glucosc-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anamia. Proc Natl Acad Sci USA 85:5171–5175
Yoshida A, Stamatoyannopoulos G, Motulsky A (1967) Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man. Science 155:97–99
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Calabrò, V., Giacobbe, A., Vallone, D. et al. Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. Hum Genet 86, 49–53 (1990). https://doi.org/10.1007/BF00205171
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00205171