Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH)

Nucleic Acids Res. 1980 Apr 11;8(7):1521-34. doi: 10.1093/nar/8.7.1521.

Abstract

We have mapped the globin gene region in the DNA of two HPFH patients. In a patient homozygous for the G gamma A gamma type of HPFH at least 24 kb of DNA in the globin gene region has been deleted to remove most of the gamma-delta intergenic region and the delta and beta globin genes. The 5' break point of the deletion is located about 9 kb upstream from the delta globin gene. The 3' break point has not been precisely located but is at least 7 kb past the beta globin gene. DNA from an individual heterozygous for the Greek (A gamma) type of HPFH, however, shows no detectable deletion in the entire gamma delta beta-globin gene region. HPFH, therefore, appears to occur in different molecular forms. These results are discussed in terms of a model for the regulation of globin gene expression in man.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / metabolism
  • DNA Restriction Enzymes
  • Fetal Hemoglobin / biosynthesis
  • Fetal Hemoglobin / genetics*
  • Globins / biosynthesis*
  • Hemoglobinopathies / genetics
  • Hemoglobinopathies / metabolism*
  • Humans
  • Lymphocytes / metabolism
  • Nucleic Acid Hybridization

Substances

  • Globins
  • DNA
  • Fetal Hemoglobin
  • DNA Restriction Enzymes