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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.

Original publication

DOI

10.1073/pnas.77.6.3586

Type

Journal article

Journal

Proceedings of the National Academy of Sciences of the United States of America

Publication Date

06/1980

Volume

77

Pages

3586 - 3589

Keywords

Humans, Thalassemia, Infant, Newborn, Diseases, Chromosome Deletion, Edema, DNA Restriction Enzymes, Fetal Hemoglobin, Globins, Chromosome Mapping, Nucleic Acid Hybridization, Recombination, Genetic, Crossing Over, Genetic, Genes, Genes, Synthetic, Infant, Newborn