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.
Iida
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Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.
D001483:Base Sequence; D016384:Consensus Sequence; D004247:DNA; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA