Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH).
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.
D002478:Cells, Cultured; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000378:metabolism; D004262:DNA Restriction Enzymes; D005319:Fetal Hemoglobin / Q000096:biosynthesis / Q000235:genetics*; D005914:Globins / Q000096:biosynthesis*; D006453:Hemoglobinopathies / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D009693:Nucleic Acid Hybridization
D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes