Mutation screening in the human ε-globin gene using single-strand conformation polymorphism analysis

Abstract

The human ε-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 ε-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′ε/HincII polymorphism in the fragments analyzed, suggesting that genomic alterations in the ε-globin gene are most likely incompatible with normal erythropoiesis and proper embryonic development. © 2006 Wiley-Liss, Inc.