The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene

Blood. 1986 Dec;68(6):1389-93.

Abstract

The G gamma and A gamma genes of an individual homozygous for the British form of A gamma nondeletion hereditary persistence of fetal hemoglobin have been cloned and partially sequenced. The G gamma gene was normal, but the A gamma gene was found to have a single base change (T----C) at -198 bp relative to the cap site. Supercoiled plasmids containing normal gamma-genes or the mutant A gamma-gene displayed an S1-hypersensitive site immediately 5' to the base change.

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • DNA Restriction Enzymes / metabolism
  • Endonucleases
  • Fetal Hemoglobin / genetics*
  • Gene Expression Regulation
  • Genes, Regulator
  • Globins / genetics*
  • Hematologic Diseases / genetics*
  • Humans
  • Mutation
  • Single-Strand Specific DNA and RNA Endonucleases

Substances

  • Globins
  • Fetal Hemoglobin
  • Endonucleases
  • DNA Restriction Enzymes
  • Single-Strand Specific DNA and RNA Endonucleases