Skip to main content
PMC home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1981 Dec 21;9(24):6813–6825. doi: 10.1093/nar/9.24.6813

Restriction mapping of a new deletion responsible for Gγ(δβ)o thalassaemia

RW Jones 1, JM Old 1, RJ Trent 1, JB Clegg 1, DJ Weatherall 1
PMCID: PMC327644  PMID: 6278449

Abstract

DNA from individuals heterozygous for Gγ(δβ)o thalassaemia has been studied by restriction endonuclease analysis. The results reveal a new molecular defect associated with this condition. A total of three defects is now responsible for the one single phenotype, thereby emphasising the complex relationship between genotype and phenotype among the disorders of β-like globin synthesis in man.

Full text

PDF
6813

Images in this article

6816Image
on p.6816
6817Image
on p.6817
6818Image
on p.6818
6820Image
on p.6820

Selected References

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

  1. Amin A. B., Pandya N. L., Diwin P. P., Darbre P. D., Kattamis C., Metaxatou-Mavromati A., White J. M., Wood W. G., Clegg J. B., Weatherall D. J. A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia. Br J Haematol. 1979 Dec;43(4):537–548. doi: 10.1111/j.1365-2141.1979.tb03786.x. [DOI] [PubMed] [Google Scholar]
  2. Bernards R., Flavell R. A. Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH). Nucleic Acids Res. 1980 Apr 11;8(7):1521–1534. doi: 10.1093/nar/8.7.1521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bernards R., Kooter J. M., Flavell R. A. Physical mapping of the globin gene deletion in (delta beta (0)) -thalassaemia. Gene. 1979 Jul;6(3):265–280. doi: 10.1016/0378-1119(79)90062-3. [DOI] [PubMed] [Google Scholar]
  4. Comi P., Giglioni B., Ottolenghi S., Gianni A. M., Polli E., Barba P., Covelli A., Migliaccio G., Condorelli M., Peschle C. Globin chain synthesis in single erythroid bursts from cord blood: studies on gamma leads to beta and G gamma leads to A gamma switches. Proc Natl Acad Sci U S A. 1980 Jan;77(1):362–365. doi: 10.1073/pnas.77.1.362. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Dincol G., Altay C., Aksoy M., Gurgey A., Felice A. E., Huisman T. H. Clinical and hematological evaluation of two delta 0 beta 0-thalassemia homozygotes. Hemoglobin. 1981;5(2):153–164. doi: 10.3109/03630268108996921. [DOI] [PubMed] [Google Scholar]
  6. Duncan C., Biro P. A., Choudary P. V., Elder J. T., Wang R. R., Forget B. G., de Riel J. K., Weissman S. M. RNA polymerase III transcriptional units are interspersed among human non-alpha-globin genes. Proc Natl Acad Sci U S A. 1979 Oct;76(10):5095–5099. doi: 10.1073/pnas.76.10.5095. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. Fritsch E. F., Lawn R. M., Maniatis T. Characterisation of deletions which affect the expression of fetal globin genes in man. Nature. 1979 Jun 14;279(5714):598–603. doi: 10.1038/279598a0. [DOI] [PubMed] [Google Scholar]
  9. Fritsch E. F., Lawn R. M., Maniatis T. Molecular cloning and characterization of the human beta-like globin gene cluster. Cell. 1980 Apr;19(4):959–972. doi: 10.1016/0092-8674(80)90087-2. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. Huisman T. H., Schroeder W. A., Efremov G. D., Duma H., Mladenovski B., Hyman C. B., Rachmilewitz E. A., Bouver N., Miller A., Brodie A. The present status of the heterogeneity of fetal hemoglobin in beta-thalassemia: an attempt to unify some observations in thalassemia and related conditions. Ann N Y Acad Sci. 1974;232(0):107–124. doi: 10.1111/j.1749-6632.1974.tb20576.x. [DOI] [PubMed] [Google Scholar]
  12. Jones R. W., Old J. M., Trent R. J., Clegg J. B., Weatherall D. J. Major rearrangement in the human beta-globin gene cluster. Nature. 1981 May 7;291(5810):39–44. doi: 10.1038/291039a0. [DOI] [PubMed] [Google Scholar]
  13. Laskey R. A., Mills A. D. Enhanced autoradiographic detection of 32P and 125I using intensifying screens and hypersensitized film. FEBS Lett. 1977 Oct 15;82(2):314–316. doi: 10.1016/0014-5793(77)80609-1. [DOI] [PubMed] [Google Scholar]
  14. Little P. F., Flavell R. A., Kooter J. M., Annison G., Williamson R. Structure of the human fetal globin gene locus. Nature. 1979 Mar 15;278(5701):227–231. doi: 10.1038/278227a0. [DOI] [PubMed] [Google Scholar]
  15. 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]
  16. Mann J. R., MacNeish A. S., Bannister D., Clegg J. B., Wood W. G., Weatherall D. J. Delta-beta-thalassaemia in a Chinese family. Br J Haematol. 1972 Oct;23(4):393–402. doi: 10.1111/j.1365-2141.1972.tb07074.x. [DOI] [PubMed] [Google Scholar]
  17. Mears J. G., Ramirez F., Leibowitz D., Nakamura F., Bloom A., Konotey-Ahulu F., Bank A. Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1222–1226. doi: 10.1073/pnas.75.3.1222. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Old J., Clegg J. B., Weatherall D. J., Ottolenghi S., Comi P., Giglioni B., Mitchell J., Tolstoshev P., Williamson R. A direct estimate of the number of human gamma-globin genes. Cell. 1976 May;8(1):13–18. doi: 10.1016/0092-8674(76)90180-x. [DOI] [PubMed] [Google Scholar]
  19. Orkin S. H., Alter B. P., Altay C. Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. J Clin Invest. 1979 Sep;64(3):866–869. doi: 10.1172/JCI109535. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Orkin S. H., Old J. M., Weatherall D. J., Nathan D. G. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci U S A. 1979 May;76(5):2400–2404. doi: 10.1073/pnas.76.5.2400. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Ottolenghi S., Giglioni B., Comi P., Gianni A. M., Polli E., Acquaye C. T., Oldham J. H., Masera G. Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease. Nature. 1979 Apr 12;278(5705):654–657. doi: 10.1038/278654a0. [DOI] [PubMed] [Google Scholar]
  22. Papayannopoulou T., Kalmantis T., Stamatoyannopoulos G. Cellular regulation of hemoglobin switching: evidence for inverse relationship between fetal hemoglobin synthesis and degree of maturity of human erythroid cells. Proc Natl Acad Sci U S A. 1979 Dec;76(12):6420–6424. doi: 10.1073/pnas.76.12.6420. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. 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]
  24. Tuan D., Murnane M. J., deRiel J. L., Forget B. G. Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature. 1980 May 29;285(5763):335–337. doi: 10.1038/285335a0. [DOI] [PubMed] [Google Scholar]
  25. Van der Ploeg L. H., Konings A., Oort M., Roos D., Bernini L., Flavell R. A. gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man. Nature. 1980 Feb 14;283(5748):637–642. doi: 10.1038/283637a0. [DOI] [PubMed] [Google Scholar]
  26. Wahl G. M., Stern M., Stark G. R. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci U S A. 1979 Aug;76(8):3683–3687. doi: 10.1073/pnas.76.8.3683. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. 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 Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES