Quantification analysis of splice signal sequences. Exon skipping in beta-globin gene of thalassemia.

Nucleotide sequences of human beta-globin and its mutant genes were analyzed by quantification method. In the mutant, a GT-->AT change occurs at the 5'-splice site of the second intron, causing skipping of the whole second exon during RNA splicing. A mechanism of exon skipping was proposed on the basis of the intensity of 3'-splice signal sequence.