Abstract
In the Ferrara district, an area south of the Po delta, four different variants of glucose-6-phosphate dehydrogenase (G6PD;E.C.1.1.49) have been described as a result of biochemical characterization of the enzyme protein: one was G6PD Mediterranean (G6PD Med) and three were local variants named Ferrara I, II, and III. The Ferrara I variant was recently analysed at the DNA level and shown to correspond to G6PD A376G/202A, while the mutations causing the variants II and III, still remain unknown. We analysed the G6PD coding region of 18 apparently unrelated G6PD deficient subjects, whose families have lived in the Ferrara district for at least three generations: 12 subjects had G6PD Med563T/1311T, 3, G6PD Santamaria376G/542T and 2, G6PD A-376G/202A. In one subject we found a new mutation, a G→A transition at nucleotide 242 causing an Arg→His amino acid replacement at position 81. We named this new variant G6PD Lagosanto242 A. Phenotypically the enzyme has nearly normal kinetic properties and appears different from the variants Ferrara II and III.
Similar content being viewed by others
References
Allison AC, Clyde DF (1961) Malaria and glucose-6-phosphate dehydrogenase. BMJ 2:521–522
Beutler E (1984) Red cell metabolism. A manual of biochemical methods 3rd edn. Grune & Stratton, New York
Beutler E (1990) The genetics of glucose-6-phosphate dehydrogenase deficiency Semin Hematol 27:137–164
Beutler E (1991) Glucose-6-phosphate dehydrogenase deficiency. N Engl J Med 324:169–174
Beutler E, Kuhl W, Gelbart T, Forman L (1991) DNA sequence abnormalities of glucose-6-phosphate dehydrogenates variants. J Biol Chem 266:4145–4150
Beutler E, Kuhl W, Saenz GF, Rodriguez W (1991b) Mutation analysis of G6PD variants in Costa Rica. Hum Genet 87:462–464
Beutler E, Westwood B, Prchal JT, Vaca G, Bartsocas CS, Baroniciani L (1992) New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80:255–256
Carandina G, Moretto E, Zecchi G, Conighi C (1976) Glucose-6-phosphate dehydrogenase Ferrara. A new variant of G6PD identified in northern Italy. Acta Haematol 56:116–122
DeFlora A, Morelli A, Benatti U, Giuntini P, Ferraris AM, Galiano S, Ravazzolo R, Gaetani GF (1981) G6PD Napoli and Ferrara II: two new glucose-6-phosphate dehydrogenase variants having similar characteristics but different intracellular lability and specifc activity. Br J Haematol 48:417–423
DeVita G, Alcalay M, Sampietro M, Cappellini MD, Fiorelli G, Toniolo D (1989) Two point mutations are responsible for G6PD deficiency in Sardinia. Am J Hum Genet 44:233–240
Fiorelli G, Anghinelli L, Carandina G, Toniolo D, Sampietro M, Cappellini MD (1990) Point mutations in two G6PD variants previously described in Italy. Blood 76 [Suppl] p7a
Gandini E, Menini C, DeFilippis A, Dell'Acqua G (1969) Deficienza di glucosio-6-fosfato deidrogenasi eritrocitaria. Studio della distribuzione nella provincia di Ferrara e dei rapporti con malaria e talassemia. Acta Genet Med Gemellol (Roma) 18:271–284
Hirono A, Beutler E (1988) Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc Natl Acad Sci USA 85:3951–3954
Kaplan JC, Rosa R, Seringe P, Hoeffel JC (1967) Le polymorphisme genetique de la glucose-6-phosphate deshydrogenase erythrocytaire chez l'homme. Enzyme 8:332–340
Luzzatto L, Usage EA, Reddy S (1969) Glucose-6-phosphate dehydrogenase deficient red cell: Resistance to infection by malaria parasites. Science 166:839–842
Luzzatto L, Sodeinde O, Martini G (1983) Genetic variation in the host and adaptive phenomena in Plasmodium falciparum infection. Ciba Found Symp 94:159–162
Motulsky AG (1961) Glucose-6-phosphate dehydrogenase deficiency haemolytic disease of the newborn and malaria. Lancet 1:1168–1169
Perroni L, Tassara P, Baidi M, Reali R, Scartezzini P, Forni GL, Sansone G (1982) G6PD variants detected in the Genoa area. In: Weatherall DJ, Fiorelli G, Gorini S (eds) Advances in red cell biology. Raven Press, New York, pp 409–416
Roth Jr EF, Raventos-Suarez C, Rinaldi A, Nagel RL (1983) Glucose-6-phosphate dehydrogenase deficiency inhibits in vitro growth of Plasmodium falciparum. Proc Natl Acad Sci USA 80:298–299
Saenz GF, Chaves M, Berrantes A, Elizondo J, Montero AG, Yoshida A (1984) A glucose-6-phosphate dehydrogenase variant Gd(-) Santamaria found in Costa Rica. Acta Haemtol (Basel) 72:37–40
Viglietto G, Montanaro V, Calabrò V, Vallone D, D'Urso M, Persico MG, Battistuzzi G (1990) Common glucose-6-phosphate dehydrogenase variants from the Italian population: biochemical and molecular characterization. Ann Hum Genet 54:1–15
Vulliamy TJ, DUrso M, Battistuzzi G, Estrada M, Foulkes S, Martini G, Calabrò V, Poggi V, Giordano R, Town M, Luzzatto L, Persico MG (1988) Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA 85:5171–5175
World Health Organization (1967) Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Tech Rep Ser 366:1–53
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ninfali, P., Baronciani, L., Ruzzo, A. et al. Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district. Hum Genet 92, 139–142 (1993). https://doi.org/10.1007/BF00219681
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00219681