MOLECULAR CLONING OF HUMAN EPSILON-GLOBIN GENE

Human β-like globin genes were investigated by use of rabbit β-globin cDNA plasmid as a cross-species hybridization probe. Normal and β0/δβ0 thalassemic DNA were compared by filter hybridization procedures. It proved possible to demonstrate that the rabbit probe detected (G)γ, (A)γ, δ, β, β0, and δβ0 human globin genes as well as an additional unidentified β-like globin gene. By use of an agarose gel elution procedure, fractions of HindIII-digested DNA enriched for β-like globin genes were purified. One of these fractions, 8.0 kilobases in size, was cloned into λ788, and EK2 λ HindIII vector. A positive clone was obtained and characterized by restriction mapping and sequence analysis. The sequence data obtained predicted an amino acid sequence that exactly matches a part of human ε-globin. The human non-α-globin locus is now nearly complete. δ, β, and γ human globin genes have already been cloned and analyzed. We describe here the cloning of the remaining non-α-globin gene, ε.