Papachatzopoulou Adamantia, Menounos Panagiotis G, Kolonelou Christina, Patrinos George P
University of Patras, School of Medicine, Department of General Biology, Patras, Greece.
Am J Hematol. 2006 Feb;81(2):136-8. doi: 10.1002/ajh.20580.
The human epsilon-globin gene is necessary for primitive human erythropoiesis in the yolk sac. Herein we report a non-radioactive single-strand conformation polymorphism (SSCP) approach to screen the human epsilon-globin gene and its regulatory regions for possible mutations and single-nucleotide polymorphisms in normal adult subjects, in order to determine those genomic regions, which are not necessary for its proper regulation and function. We identified no sequence variations apart from the expected 5'epsilon /HincII polymorphism in the fragments analyzed, suggesting that genomic alterations in the epsilon-globin gene are most likely incompatible with normal erythropoiesis and proper embryonic development.
