title: Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia.
abstract: The nucleotide sequence at the intron-exon junction in the human beta-globin gene was analyzed by the quantification method (categorical discriminant analysis) proposed previously. Using the sample score of a 16-nucleotide sequence at a 3'-splice junction, we studied to what extent such a sequence contains the 3'-splice signal. To examine the applicability of our method, we further studied several mutants of beta-thalassemia, where nucleotide changes exist at 3'-splice junction sequences of the first and second introns. Other mutants involve point mutations which generate new 3'-splice signals within the first intron. Experimental results on the abnormal splicing in those mutants could be explained in terms of the sample scores of 16-nucleotide sequences and their locations relative to the branch point.
authors.affiliation: Department of Chemistry, Faculty of Science, Hokkaido University.
authors.forename: Y
authors.initials: Y
authors.lastname: Iida
mesh_terms: D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism*; D013789:Thalassemia / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D005914:Globins