Human globin gene analysis for a patient with beta-o/delta beta-thalassemia

Proc Natl Acad Sci U S A. 1975 Jun;72(6):2294-9. doi: 10.1073/pnas.72.6.2294.

Abstract

Complementary DNA (cDNA) was prepared with RNA-dependent DNA polymerase from human globin messenger RNA (mRNA). Annealing and translation experimenta with total mRNA from circulating cells from a patient with heterozygous beta/heterozygous beta-delta-o thalassemia (beta-o/delta beta-o-thalassemia) demonstrated no detectable mRNA for beta-globin. cDNA enriched in sequences homologous to beta-globin mRNA was prepared by hydroxylapatite fractionation of hybrids formed between beta-o/delta beta-o-thalassemic mRNA and cDNA made from mRNA from a patient with alpha-thalassemia (hemoglobin H disease). The rate of annealing of this beta-enriched cDNA to normal human nuclear DNA was that of a sequence present as only a single copy per haploid genome. The beta-enriched cDNA annealed to the beta-o-delta beta-o-thalassemia total DNA with approximately the same kinetics as to normal DNA, indicating that no total gene deletion of beta-globin genes from the diploid genome has occurred, although the accuracy of the technique could not exclude with certainty a partial deletion or a deletion of a beta-globin gene from only one of the haploid genomes. This demonstrates that at least one of the beta-o- or the delta beta-o-thalassemia haploid genomes in this case contains a substantially intact beta-globin gene.

MeSH terms

  • Adolescent
  • Avian Myeloblastosis Virus / enzymology
  • Chromatography
  • DNA
  • Female
  • Genes*
  • Genetics, Medical*
  • Globins / biosynthesis
  • Heterozygote
  • Humans
  • Hydroxyapatites
  • Male
  • Molecular Weight
  • Nucleic Acid Hybridization
  • Protein Biosynthesis
  • RNA, Messenger / blood
  • RNA-Directed DNA Polymerase
  • Reticulocytes / metabolism
  • Thalassemia / blood*
  • Thalassemia / metabolism

Substances

  • Hydroxyapatites
  • RNA, Messenger
  • Globins
  • DNA
  • RNA-Directed DNA Polymerase