Physical mapping of the globin gene deletion in (delta beta (0)) -thalassaemia. |
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Authors: | R Bernards J M Kooter R A Flavell |
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Institution: | Section for Medical Enzymology and Molecular Biology, Laboratory of Biochemistry, University of Amsterdam, Jan Swammerdam Institute, P.O. Box 60.000, 10005 GA Amsterdam, The Netherlands |
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Abstract: | We have constructed a physical map of restriction endonuclease cleavage sites in the (delta (+) beta)-globin gene region in the DNA of patients with (delta beta(0))-thalassaemia. This map shows that a 10 kb deletion has occured in (delta beta (0))-thalassaemia to remove the entire beta-globin gene and the 3' portion of the delta-globin gene. The 5' terminus of the deletion is in the large intron of the delta-globin gene and the 3' terminus 1.8 kb to the 3'-side of the beta-globin gene. A similar deletion of about 7 kb has been described previously in the DNA of patients with Hb Lepore; the 5' terminus of the deletion is also in the delta-globin gene but the 3' terminus is in the beta-globin gene. Comparison of the foetal (gamma) globin gene expression in adults with (delta beta(0))-thalassaemia and Hba Lepore suggests that the 3' extragenic regions of the beta-globin gene contain DNA sequences involved in the regulation of gamma-globulin gene expression. |
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Keywords: | Foetal-adult gene switch genomic blotting filter hybridization recombinant DNA plasmid pCRI vector HPFH Hereditary Persistence of Foetal Haemoglobin kb kilo-base pair(s) cDNA complementary DNA mRNA messenger RNA SSC 150 mM NaCl-15 mM sodium citrate (pH 7 0) |
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