We have used the powerful methodology of DNA enzymatic amplification in order to assign human α-globin structural mutants to one of the two highly homologous α-globin genes. Selectively amplified α1 and α2-globin cDNAs were dot-blotted and further hybridized to synthetic oligonucleotides encompassing either the normal or the mutated sequences. The generated signals corresponded specifically to one of the two α-globin genes. Using this approach the α-globin structural mutants J-Buda and G-Pest were found to be encoded by the α2 and the α1-globin genes, respectively. Furthermore, the exact nucleotide changes were determined. We propose this technique to serve as a simple and definitive method for assigning α-globin structural mutants.
ASJC Scopus subject areas