New glucose-6-phosphate dehydrogenase mutations from various ethnic groups

Blood. 1992 Jul 1;80(1):255-6.

Abstract

Seven new mutations that produce glucose 6 phosphate dehydrogenase (G6PD) deficiency are described. Three are in variants that were biochemically characterized and described previously, while four were found in samples that had not been characterized biochemically. Several of the mutations affect the amino acids that are mutated in other G6PD variants. As had been noted previously, variants that are associated with nonspherocytic anemia are located either near the glucose 6 phosphate or the NADP binding sites. Variants more distant from these sites are not associated with chronic hemolysis.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chile / ethnology
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Greece / ethnology
  • Humans
  • Japan / ethnology
  • Mexico / ethnology
  • Mutation
  • United States / ethnology

Substances

  • Glucosephosphate Dehydrogenase