Quantification Analysis of Human α- and δ-Globin Genes. Mutations in 5′-Splice Junction Sequence and α- and δ- Thalassemias

Abstract

Nucleotide sequences of the exon-intron junction in human α- And δ-globin genes were analyzed by the quantification method proposed previously. We further studied several mutants of α- and δ- thalassemiaso, where mutational changes occur around the 5′-splice junction of the first intron. These changes abolish the normal 5′-splice site completely, but activate a cryptic site lying in the first exon. Such behaviours were well explained in terms of our quantification analysis.