Restriction endonuclease maps of the beta-like globin gene cluster in the British and Greek forms of HPFH, and for one example of G gamma beta + HPFH.
We report here restriction endonuclease maps of the beta-like globin gene cluster for the British form of HPFH and for a case of G gamma beta + HPFH, and also confirm and extend previous reports of the map for the Greek form of HPFH. These results show that all these conditions belong to a group lacking any substantial deletion or rearrangement of DNA sequence in this gene cluster. The absence of any gross disruption of the structure of this region of the genome, together with evidence that the HPFH genotype is either allelic with, or closely linked to, the beta-like globin gene cluster, suggests that the responsible lesions are nearer to being purely regulatory in nature than in forms of HPFH due to substantial deletions. Thus these conditions promise to provide less equivocal evidence about the regulation of beta-like globin gene expression than has so far been available.
D002874:Chromosome Mapping; D004247:DNA; D004262:DNA Restriction Enzymes; D005319:Fetal Hemoglobin; D005786:Gene Expression Regulation; D005796:Genes; D005914:Globins / Q000235:genetics*; D006115:Greece; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D006113:United Kingdom
D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes