Skip to main content
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1979 Jun 25;6(8):2749–2760. doi: 10.1093/nar/6.8.2749

The structure of the human beta-globin gene in beta-thalassaemia.

R A Flavell, R Bernards, J M Kooter, E de Boer, P F Little, G Annison, R Williamson
PMCID: PMC327890  PMID: 461203

Abstract

Twenty-one cases of beta 0 and beta +-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the beta- and delta-globin genes could be detected. However, in a single Asian case of beta 0-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a beta-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the beta-globin coding sequence.

Full text

PDF
2752

Images in this article

Selected References

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

  1. Benz E. J., Forget B. G., Hillman D. G., Cohen-Solal M., Pritchard J., Cavallesco C., Prensky W., Housman D. Variability in the amount of beta-globin mRNA in beta0 thalassemia. Cell. 1978 Jun;14(2):299–312. doi: 10.1016/0092-8674(78)90116-2. [DOI] [PubMed] [Google Scholar]
  2. Botchan M., Topp W., Sambrook J. The arrangement of simian virus 40 sequences in the DNA of transformed cells. Cell. 1976 Oct;9(2):269–287. doi: 10.1016/0092-8674(76)90118-5. [DOI] [PubMed] [Google Scholar]
  3. Comi P., Giglioni B., Barbarano L., Ottolenghi S., Williamson R., Novakova M., Masera G. Transcriptional and post-transcriptional defects in beta0-thalassaemia. Eur J Biochem. 1977 Oct 3;79(2):617–622. doi: 10.1111/j.1432-1033.1977.tb11846.x. [DOI] [PubMed] [Google Scholar]
  4. Flavell R. A., Kooter J. M., De Boer E., Little P. F., Williamson R. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell. 1978 Sep;15(1):25–41. doi: 10.1016/0092-8674(78)90080-6. [DOI] [PubMed] [Google Scholar]
  5. Flavell R. A., Sabo D. L., Bandle E. F., Weissmann C. Site-directed mutagenesis: generation of an extracistronic mutation in bacteriophage Q beta RNA. J Mol Biol. 1974 Oct 25;89(2):255–272. doi: 10.1016/0022-2836(74)90517-8. [DOI] [PubMed] [Google Scholar]
  6. Forget B. G., Benz E. J., Jr, Skoultchi A., Baglioni C., Housman D. Absence of messenger RNA for beta globin chain in beta(0) thalassaemia. Nature. 1974 Feb 8;247(5440):379–381. doi: 10.1038/247379a0. [DOI] [PubMed] [Google Scholar]
  7. Housman D., Forget B. G., Skoultchi A., Benz E. J., Jr Quantitative deficiency of chain-specific globin messenger ribonucleic acids in the thalassemia syndromes. Proc Natl Acad Sci U S A. 1973 Jun;70(6):1809–1813. doi: 10.1073/pnas.70.6.1809. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Jeffreys A. J., Flavell R. A. A physical map of the DNA regions flanking the rabbit beta-globin gene. Cell. 1977 Oct;12(2):429–439. doi: 10.1016/0092-8674(77)90119-2. [DOI] [PubMed] [Google Scholar]
  9. Kacian D. L., Gambino R., Dow L. W., Grossbard E., Natta C., Ramirez F., Spiegelman S., Marks P. A., Bank A. Decreased globin messenger RNA in thalassemia detected by molecular hybridization. Proc Natl Acad Sci U S A. 1973 Jun;70(6):1886–1890. doi: 10.1073/pnas.70.6.1886. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Kan Y. W., Dozy A. M. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet. 1978 Oct 28;2(8096):910–912. doi: 10.1016/s0140-6736(78)91629-x. [DOI] [PubMed] [Google Scholar]
  11. Kan Y. W., Holland J. P., Dozy A. M., Varmus H. E. Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia. Proc Natl Acad Sci U S A. 1975 Dec;72(12):5140–5144. doi: 10.1073/pnas.72.12.5140. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Lawn R. M., Fritsch E. F., Parker R. C., Blake G., Maniatis T. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Cell. 1978 Dec;15(4):1157–1174. doi: 10.1016/0092-8674(78)90043-0. [DOI] [PubMed] [Google Scholar]
  13. Little P., Curtis P., Coutelle C., Van den Berg J., Dalgleish R., Malcolm S., Courtney M., Westaway D., Williamson R. Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments. Nature. 1978 Jun 22;273(5664):640–643. doi: 10.1038/273640a0. [DOI] [PubMed] [Google Scholar]
  14. Marotta C. A., Wilson J. T., Forget B. G., Weissman S. M. Human beta-globin messenger RNA. III. Nucleotide sequences derived from complementary DNA. J Biol Chem. 1977 Jul 25;252(14):5040–5053. [PubMed] [Google Scholar]
  15. Mears J. G., Ramirez F., Leibowitz D., Bank A. Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts. Cell. 1978 Sep;15(1):15–23. doi: 10.1016/0092-8674(78)90079-x. [DOI] [PubMed] [Google Scholar]
  16. Old J. M., Proudfoot N. J., Wood W. G., Longley J. I., Clegg J. B., Weatherall D. J. Characterization of beta-globin mRNA in the beta0 thalassemias. Cell. 1978 Jun;14(2):289–298. doi: 10.1016/0092-8674(78)90115-0. [DOI] [PubMed] [Google Scholar]
  17. Orkin S. H., Alter B. P., Altay C., Mahoney M. J., Lazarus H., Hobbins J. C., Nathan D. G. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med. 1978 Jul 27;299(4):166–172. doi: 10.1056/NEJM197807272990403. [DOI] [PubMed] [Google Scholar]
  18. Ottolenghi S., Comi P., Giglioni B., Tolstoshev P., Lanyon W. G., Mitchell G. J., Williamson R., Russo G., Musumeci S., Schillro G. Delta-beta-thalassemia is due to a gene deletion. Cell. 1976 Sep;9(1):71–80. doi: 10.1016/0092-8674(76)90053-2. [DOI] [PubMed] [Google Scholar]
  19. Ramirez F., O'Donnell J. V., Marks P. A., Bank A., Musumeci S., Schilirò G., Pizzarelli G., Russo G., Luppis B., Gambino R. Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia. Nature. 1976 Oct 7;263(5577):471–475. doi: 10.1038/263471a0. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. Tolstoshev P., Mitchell J., Lanyon G., Williamson R., Ottolenghi S., Comi P., Giglioni B., Masera G., Modell B., Weatherall D. J. Presence of gene for beta globin in homozygous beta0 thalassaemia. Nature. 1976 Jan 15;259(5539):95–98. doi: 10.1038/259095a0. [DOI] [PubMed] [Google Scholar]
  22. Trendelenburg M. F., Gurdon J. B. Transcription of cloned Xenopus ribosomal genes visualised after injection into oocyte nuclei. Nature. 1978 Nov 16;276(5685):292–294. doi: 10.1038/276292a0. [DOI] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES