caa a22 4500 467986371 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205171 doi (NATIONALLICENCE)springer-10.1007/BF00205171 Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district [Elektronische Daten] [V. Calabrò, A. Giacobbe, D. Vallone, V. Montanaro, A. Cascone, S. Filosa, G. Battistuzzi] 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. Springer-Verlag, 1990 Calabrò V. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut Giacobbe A. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut Vallone D. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut Montanaro V. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut Cascone A. Ospedale Civile di Matera, Centro per lo studio delle Microcitemie, I-75100, Matera, Italy aut Filosa S. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut Battistuzzi G. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut Human Genetics Springer-Verlag 86/1(1990-11-01), 49-53 0340-6717 86:1<49 1990 86 439 https://doi.org/10.1007/BF00205171 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205171 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Calabrò V. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut NATIONALLICENCE 700 1- Giacobbe A. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut NATIONALLICENCE 700 1- Vallone D. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut NATIONALLICENCE 700 1- Montanaro V. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut NATIONALLICENCE 700 1- Cascone A. Ospedale Civile di Matera, Centro per lo studio delle Microcitemie, I-75100, Matera, Italy aut NATIONALLICENCE 700 1- Filosa S. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut NATIONALLICENCE 700 1- Battistuzzi G. Dipartimento di Genetica, Biologia Generale e Molecolare, Via Mezzocannone, 8, I-80134, Naples, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 49-53 0340-6717 86:1<49 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer