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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
Author(s) -
Papayannopoulou Th.,
Lawn R. M.,
Stamatoyannopoulos G.,
Maniatis T.
Publication year - 1982
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1982.tb01934.x
Subject(s) - biology , globin , microbiology and biotechnology , gene , genetics
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.