title: Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis.
abstract: 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.
authors.affiliation: University of Patras, School of Medicine, Department of General Biology, Patras, Greece.
authors.forename: Adamantia
authors.initials: A
authors.lastname: Papachatzopoulou
authors.forename: Panagiotis G
authors.initials: PG
authors.lastname: Menounos
authors.forename: Christina
authors.initials: C
authors.lastname: Kolonelou
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005796:Genes; D005820:Genetic Testing / Q000379:methods; D005914:Globins / Q000235:genetics*; D006801:Humans; D017720:Molecular Epidemiology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D050436:Regulatory Elements, Transcriptional
chemical_list: D005914:Globins