The molecular basis of glucose-6-phosphate dehydrogenase deficiency

Trends Genet. 1992 Apr;8(4):138-43. doi: 10.1016/0168-9525(92)90372-B.

Abstract

With more than 300 different variants reported, the human enzyme glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) is one of the most polymorphic proteins known. An estimated 400 million people throughout the world are deficient in G6PD; numerous lines of evidence indicate that this is because female heterozygotes have a selective advantage in malaria infections. The cloning of the G6PD gene has made it possible to clarify the molecular basis underlying this enzyme deficiency and polymorphism.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Biological Evolution
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Malaria, Falciparum / ethnology
  • Molecular Sequence Data
  • Mutation / genetics*
  • Selection, Genetic