Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico

Eur J Biochem. 1977 Aug 15;78(1):161-5. doi: 10.1111/j.1432-1033.1977.tb11725.x.

Abstract

Complementary DNA (cDNA) was prepared with viral RNA-dependent DNA polymerase using human globin messenger RNA (mRNA) as template. By selective hydridization to globin mRNA from beta-thalassaemics a probe which was greater than 85% complementary to alpha-globin mRNA was purified. This was hybridized in cDNA excess to human genomic DNA, and the rate and extent of hybridization confirmed that there are two genes for alpha-globin per haploid genome. Cellular DNA was also prepared from peripheral blood from cases expressing the alpha-globin chain mutant Hb J Mexico to varying extents. This DNA was identical in hybridization behaviour to normal DNA demonstrating that the imbalanced mutant chain synthesis seen physiologically is not due to a gene deletion.

MeSH terms

  • Adult
  • DNA / metabolism*
  • Female
  • Genes*
  • Globins / biosynthesis*
  • Haploidy
  • Hemoglobin A / biosynthesis*
  • Hemoglobin J / genetics*
  • Hemoglobins / biosynthesis*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Kinetics
  • Nucleic Acid Hybridization
  • Placenta
  • Pregnancy
  • RNA, Messenger / metabolism
  • RNA-Directed DNA Polymerase / metabolism
  • Reticulocytes / metabolism
  • Templates, Genetic

Substances

  • Hemoglobins
  • Hemoglobins, Abnormal
  • RNA, Messenger
  • Hemoglobin J
  • Globins
  • DNA
  • Hemoglobin A
  • RNA-Directed DNA Polymerase