Gene Deletions in α thalassemia Prove that the 5'\ zeta Locus is Functional
Abstract
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.
- Publication:
-
Proceedings of the National Academy of Science
- Pub Date:
- June 1980
- DOI:
- 10.1073/pnas.77.6.3586
- Bibcode:
- 1980PNAS...77.3586P