Abstract
The human α-globin genes are duplicated and encode identical polypeptides. Recently we detected in cloned genomic DNAs characteristic sequence differences between the 3′ untranslated regions of the 5′ (α2) and 3′ (α1) genes, not previously recognized by direct analysis of mRNA and cDNA transcripts. Based on these untranslated region differences, we have now used S1 nuclease mapping of RNA to detect and quantitate the two predicted α-mRNA species. With this assay we have examined the relative expression of the α-globin genes during normal development and in α-thalassemia syndromes. In normal adult reticulocytes, α2 RNA is slightly more abundant than the α1 species (ratio 60:40). This relative abundance of the a RNAs was consistently observed in fetal blood and liver RNA samples from 10 weeks of gestation to birth. In both deletion and nondeletion forms of α thalassemia, only the α1 RNA species was present in erythroid RNA. These studies resolve prior conflicts regarding the heterogeneity of α RNA and establish the normal pattern of relative α-gene expression during development independent of protein variants. RNA analysis also permits for the first time identification of the mutant genes in nondeletion forms of a thalassemia.
Published Version
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