Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH)
Open Access
- 11 April 1980
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 8 (7) , 1521-1534
- https://doi.org/10.1093/nar/8.7.1521
Abstract
We have mapped the globin gene region in the DNA of two HPFH patients. In a patient homozygous for the GγAγ type of HPFH at least 24 kb of DNA in the globin gene region has been deleted to remove most of the γ – δ intergenic region and the δ and β globin genes. The 5′ break point of the deletion is located about 9 kb upstream from the δ 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 (Aγ) type of HPFH, however, shows no detectable deletion in the entire γδβ-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.Keywords
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