Skip to main content
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1980 Jun;77(6):3586–3589. doi: 10.1073/pnas.77.6.3586

Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional.

L Pressley, D R Higgs, J B Clegg, D J Weatherall
PMCID: PMC349662  PMID: 6158051

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.

Full text

PDF
3586

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BAGLIONI C. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci U S A. 1962 Nov 15;48:1880–1886. doi: 10.1073/pnas.48.11.1880. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Capp G. L., Rigas D. A., Jones R. T. Evidence for a new haemoglobin chain (zeta-chain). Nature. 1970 Oct 17;228(5268):278–280. doi: 10.1038/228278b0. [DOI] [PubMed] [Google Scholar]
  3. DIAMOND M. P., COTGROVE I., PARKER A. CASE OF INTRAUTERINE DEATH DUE TO ALPHA-THALASSAEMIA. Br Med J. 1965 Jul 31;2(5456):278–279. doi: 10.1136/bmj.2.5456.278. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Deisseroth A., Nienhuis A., Turner P., Velez R., Anderson W. F., Ruddle F., Lawrence J., Creagan R., Kucherlapati R. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay. Cell. 1977 Sep;12(1):205–218. doi: 10.1016/0092-8674(77)90198-2. [DOI] [PubMed] [Google Scholar]
  5. Fouquet H., Sauer H. W. Variable redundancy in RNA transcripts isolated in S and G2 phase of the cell cycle of Physarum. Nature. 1975 May 15;255(5505):253–254. doi: 10.1038/255253a0. [DOI] [PubMed] [Google Scholar]
  6. Gale R. E., Clegg J. B., Huehns E. R. Human embryonic haemoglobins Gower 1 and Gower 2. Nature. 1979 Jul 12;280(5718):162–164. doi: 10.1038/280162a0. [DOI] [PubMed] [Google Scholar]
  7. Gross-Bellard M., Oudet P., Chambon P. Isolation of high-molecular-weight DNA from mammalian cells. Eur J Biochem. 1973 Jul 2;36(1):32–38. doi: 10.1111/j.1432-1033.1973.tb02881.x. [DOI] [PubMed] [Google Scholar]
  8. HUEHNS E. R., DANCE N., BEAVEN G. H., HECHT F., MOTULSKY A. G. HUMAN EMBRYONIC HEMOGLOBINS. Cold Spring Harb Symp Quant Biol. 1964;29:327–331. doi: 10.1101/sqb.1964.029.01.035. [DOI] [PubMed] [Google Scholar]
  9. Higgs D. R., Old J. M., Pressley L., Clegg J. B., Weatherall D. J. A novel alpha-globin gene arrangement in man. Nature. 1980 Apr 17;284(5757):632–635. doi: 10.1038/284632a0. [DOI] [PubMed] [Google Scholar]
  10. Kan Y. W., Dozy A. M., Stamatoyannopoulos G., Hadjiminas M. G., Zachariades Z., Furbetta M., Cao A. Molecular basis of hemoglobin-H disease in the Mediterranean population. Blood. 1979 Dec;54(6):1434–1438. [PubMed] [Google Scholar]
  11. Maniatis T., Jeffrey A., Kleid D. G. Nucleotide sequence of the rightward operator of phage lambda. Proc Natl Acad Sci U S A. 1975 Mar;72(3):1184–1188. doi: 10.1073/pnas.72.3.1184. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Orkin S. H., Old J., Lazarus H., Altay C., Gurgey A., Weatherall D. J., Nathan D. G. The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell. 1979 May;17(1):33–42. doi: 10.1016/0092-8674(79)90292-7. [DOI] [PubMed] [Google Scholar]
  13. Orkin S. H. The duplicated human alpha globin genes lie close together in cellular DNA. Proc Natl Acad Sci U S A. 1978 Dec;75(12):5950–5954. doi: 10.1073/pnas.75.12.5950. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Ottolenghi S., Lanyon W. G., Paul J., Williamson R., Weatherall D. J., Clegg J. B., Pritchard J., Pootrakul S., Boon W. H. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. Nature. 1974 Oct 4;251(5474):389–392. doi: 10.1038/251389a0. [DOI] [PubMed] [Google Scholar]
  15. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  16. Taylor J. M., Dozy A., Kan Y. W., Varmus H. E., Lie-Injo L. E., Ganesan J., Todd D. Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature. 1974 Oct 4;251(5474):392–393. doi: 10.1038/251392a0. [DOI] [PubMed] [Google Scholar]
  17. Todd D., Lai M. C., Beaven G. H., Huehns E. R. The abnormal haemoglobins in homozygous alpha-thalassaemia. Br J Haematol. 1970 Jul;19(1):27–31. doi: 10.1111/j.1365-2141.1970.tb01598.x. [DOI] [PubMed] [Google Scholar]
  18. Weatherall D. J., Clegg J. B., Boon W. H. The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome. Br J Haematol. 1970 Mar;18(3):357–367. doi: 10.1111/j.1365-2141.1970.tb01449.x. [DOI] [PubMed] [Google Scholar]
  19. Weatherall D. J., Clegg J. B. Recent developments in the molecular genetics of human hemoglobin. Cell. 1979 Mar;16(3):467–479. doi: 10.1016/0092-8674(79)90022-9. [DOI] [PubMed] [Google Scholar]
  20. Wilson J. T., Wilson L. B., deRiel J. K., Villa-komaroff L., Efstratiadis A., Forget B. G., Weissman S. M. Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acids Res. 1978 Feb;5(2):563–581. doi: 10.1093/nar/5.2.563. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES