Restriction endonuclease gene mapping studies of an Indian (A gamma delta beta)zero-thalassaemia, previously identified as G gamma-HPFH

Br J Haematol. 1984 Aug;57(4):663-70.

Abstract

Restriction endonuclease mapping data are presented for the DNA of a young Indian homozygous patient (and his heterozygous parents) who were identified 10 years ago as having a G gamma-hereditary persistence of fetal haemoglobin (Sukumaran et al, 1972). However, the present results indicate a genetic lesion in these persons which is similar to that observed in another Indian with (A gamma delta beta)0-thalassaemia homozygosity (Amin et al, 1979) and is characterized by two relatively short deletions and an inversion involving the A gamma, delta and beta globin genes (Jones et al, 1981a). Some additional blot hybridization studies have provided further data confirming the deletion-inversion hypothesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Inversion
  • Chromosome Mapping
  • DNA Restriction Enzymes
  • DNA*
  • Fetal Hemoglobin / genetics
  • Hemoglobins / analysis
  • Homozygote
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Thalassemia / genetics*

Substances

  • Hemoglobins
  • DNA
  • Fetal Hemoglobin
  • DNA Restriction Enzymes