Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter

Blood. 1988 Mar;71(3):815-7.

Abstract

A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G gamma hereditary persistence of fetal hemoglobin (HPFH). The G gamma-globin gene from the HPFH chromosome shows the presence of a T----C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the gamma-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Fetal Hemoglobin*
  • Globins / genetics*
  • Haplotypes
  • Hemoglobinopathies / genetics*
  • Heterozygote
  • Humans
  • Italy
  • Molecular Sequence Data
  • Mutation
  • Promoter Regions, Genetic*
  • Recombination, Genetic*

Substances

  • Globins
  • Fetal Hemoglobin