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Quantification analysis of human delta-globin gene. Mutation in 5'-splice junction sequence and delta-thalassemia
1Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.
Nucleic Acids Symposium Series
|January 1, 1991
Abstract:
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.