Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional.
The deletions in the zeta-alpha globin gene cluster in two infants with the hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha thalassemia 1) have been mapped by restriction endonuclease analysis using a zeta-specific probe. DNA from a Thai infant lacked the psi alpha 1 gene and both alpha genes, but the zeta genes were present. A Greek infant's DNA had also lost the 3' zeta 1 gene. Because zeta globin was synthesized in the infant's cord blood, this indicates that the 5' zeta 2 gene recently identified by Lauer et al. [Lauer, J., Shen, C. J. & Maniatis, T. (1980) Cell, in press] must be functional.
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003434:Crossing Over, Genetic; D004262:DNA Restriction Enzymes; D004487:Edema / Q000097:blood; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes; D005813:Genes, Synthetic; D005914:Globins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood; D009693:Nucleic Acid Hybridization; D011995:Recombination, Genetic; D013789:Thalassemia / Q000097:blood / Q000145:classification / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes