Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on the population of Naples

Hum Genet. 1985;69(3):228-32. doi: 10.1007/BF00293030.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic phenotype was determined in red cells from 979 male subjects born in Naples (Southern Italy). In 0.7% of the cases no activity could be detected in haemolysates, while in 1.3% of the cases G6PD activity was approximately 20% of normal and electrophoretic mobility was altered. Moreover in two subjects a G6PD with altered mobility and normal activity was shown. G6PD was characterized in 10 subjects with variant phenotype. We conclude that the G6PD(-) phenotype in the population of Naples consists of at least six different G6PD variants associated with mild deficiency and at least one, G6PD Mediterranean, associated with severe deficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Erythrocytes / enzymology
  • Genetic Variation*
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Italien
  • Kinetics
  • Male
  • Phenotype

Substances

  • Glucosephosphate Dehydrogenase