Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene

J Clin Lab Anal. 2003;17(3):90-2. doi: 10.1002/jcla.10075.


In this study, we investigated whether glucose-6-phosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5' untranslated region (UTR) in 65 G6PD-deficient individuals, in which no mutations have been found in the G6PD gene coding sequences, using a nonradioactive polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP) analysis. We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis / methods
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Greece
  • Humans
  • Male
  • Military Personnel
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Promoter Regions, Genetic*


  • Glucosephosphate Dehydrogenase