Quantification analysis of human delta-globin gene. Mutation in 5'-splice junction sequence and delta-thalassemia.

Nucleotide sequence of the exon-intron junction in human delta-globin pre-mRNA was analyzed by quantification method proposed previously. Using sample score of 9-nucleotide sequence in the consensus region of 5'-splice site, we examined strength of 5'-splice signal, which was found to play important role in splice site selection. To demonstrate the role, we studied two mutant genes of delta-thalassemia.