A new polymorphic site in the G6PD gene

Hum Genet. 1992 Jul;89(5):485-6. doi: 10.1007/BF00219170.

Abstract

A polymorphic restriction site has been found in intron 11 of the gene for glucose-6-phosphate dehydrogenase (G6PD). This site is produced by a T----C substitution 13 bp upstream of exon 12, producing an NlaIII restriction site. In various populations there was a strong association between a T at nt 1311 of the G6PD cDNA and the presence of the NlaIII restriction site. Among African Americans, however, the presence of a C at nt 1311 was sometimes associated with the presence of a polymorphic NlaIII site.

Publication types

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

MeSH terms

  • Base Sequence
  • Black People / genetics
  • DNA Mutational Analysis
  • Deoxyribonucleases, Type II Site-Specific / genetics*
  • Ethnicity
  • Genes / genetics*
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Restriction Fragment Length*
  • Restriction Mapping
  • United States

Substances

  • Glucosephosphate Dehydrogenase
  • endodeoxyribonuclease NlaIII
  • Deoxyribonucleases, Type II Site-Specific