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Greek ( A γ) variant of hereditary persistence of fetal haemoglobin: globin gene organization and studies of expression of fetal haemoglobins in clonal erythroid cultures

1982; Wiley; Volume: 50; Issue: 3 Linguagem: Inglês

10.1111/j.1365-2141.1982.tb01934.x

1365-2141

T Papayannopoulou, Richard M. Lawn, G. Stamatoyannopoulos, Tom Maniatis,

Iron Metabolism and Disorders

Individuals heterozygous for the Greek ( A γ) variant of hereditary persistence of fetal haemoglobin (HPFH) synthesize Hb F whose γ‐globin chains are predominantly of the A γ type. DNA obtained from Greek HPFH heterozygotes was used to test for abnormalities in the organization of non α‐globin genes. In addition, γ‐ and β‐globin expression was studied in BFUe cultures. Restriction endonuclease mapping showed that the γ G γ, δ and β genes in cis to the Greek HPFH determinant are intact. Overproduction of γ‐globin chains synthesis was observed in the BFUe cultures. A significant portion of the γ chain synthesis was of the G γ type, suggesting that the G γ genes cis and trans to the HPFH chromosome are active in culture.