Detection of point mutations in exon 2 of the G6PD gene in Chinese G6PD variants

Chin Med Sci J. 1994 Mar;9(1):20-3.

Abstract

In the past few years, a total of 6 different mutations of the G6PD gene have been reported in China. One of these, the C6 mutation (A95-->G), accounted for about 15.4% of the Chinese G6PD variants. In order to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene, we applied the single-strand conformation polymorphism (SSCP) technique to the detection of mutations in exon 2 of this gene. We observed four patients with abnormal migration patterns of the exon 2 band among 20 cases of G6PD variants. Direct PCR sequencing confirmed a T to C substitution in exon 2 that has previously been reported. This procedure is therefore of particular importance for the rapid detection of mutation-containing exons in the G6PD gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / genetics
  • Exons
  • Genes
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • DNA
  • Glucosephosphate Dehydrogenase