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Nucleic Acids Research, 1980, Vol. 8, No. 7 1521-1534
© 1980

Articles

Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH)

R. Bernards and R.A. Flavell

Section for Medical Enzymology and Molecular Biology, Laboratory of Biochemistry, University of Amsterdam, Jan Swammerdam Institute P.O. Box 60.000, 1005 GA Amsterdam, Netherlands Laboratory of Gene Structure and Expression, National Institute for Medical Research Mill Hill, London NW7 1AA, UK

Received February 4, 1995. We have mapped the globin gene region in the DNA of two HPFH patients. In a patient homozygous for the G{gamma}A{gamma} type of HPFH at least 24 kb of DNA in the globin gene region has been deleted to remove most of the {gamma} – {delta} intergenic region and the {delta} and ß globin genes. The 5' break point of the deletion is located about 9 kb upstream from the {delta} globin gene. The 3' break point has not been precisely located but is at least 7 kb past the B globin gene. DNA from an individual heterozygous for the Greek (A{gamma}) type of HPFH, however, shows no detectable deletion in the entire {gamma}{delta}ß-globin gene region. HPFH, therefore, appears to occur in different molecular forms. These results are discussed in terms of a model for the regulation of globin gene expression in man.


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