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. 1980 Apr 11;8(7):1521-34.
doi: 10.1093/nar/8.7.1521.

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

R Bernards, R A Flavell
Free PMC article

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

R Bernards et al. Nucleic Acids Res. .
Free PMC article

Abstract

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 beta 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 beta 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 beta-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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