Molecular heterogeneity underlying the G6PD Mediterranean phenotype

Hum Genet. 1992 Mar;88(6):688-90. doi: 10.1007/BF02265298.

Abstract

As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. Although the biochemical properties of red-cell G6PD from this subject were similar to those of the common variant G6PD Mediterranean, the corresponding mutation (563 C----T) was not present. Instead, polymerase chain reaction (PCR) amplification and sequencing of the entire gene detected a C----T transition at nucleotide 592 in exon VI, changing an arginine residue to a cysteine residue only 10 amino acids downstream from the Mediterranean mutation. Single-strand conformation polymorphism analysis of a PCR-amplified DNA fragment spanning exons VI and VII of the G6PD gene has detected the same mutation, confirmed by sequencing, in a G6PD-deficient patient from Southern Italy. We name this new variant G6PD Coimbra.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Favism / enzymology
  • Favism / genetics
  • Genetic Variation
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction

Substances

  • Glucosephosphate Dehydrogenase