Molecular cloning of human epsilon-globin gene.

Abstract
Human .beta.-like globin genes were investigated by use of rabbit .beta.-globin c[complementary]DNA plasmid as a cross-species hybridization probe. Normal and .beta.o/.delta..beta.o thalassemic DNA were compared by filter hybridization procedures. The rabbit probe detected G.gamma., A.gamma., .delta., .beta., .beta.o and .delta..beta.o human globin genes and an additional unidentified .beta.-like globin gene. By use of an agarose gel elution procedure, fractions of HindIII-digested DNA enriched for .beta.-like globin genes were purified. One of these fractions, 8.0 kilobases in size, was cloned into .lambda.788 and EK2 .lambda. HindIII vectors. 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 .epsilon.-globin. The human non-.alpha.-globin locus is not nearly complete. .delta., .beta. and .gamma. Human globin genes have already been cloned and analyzed. The cloning of the remaining non-.alpha.-globin gene, .epsilon., is reported.