Nucleotide Sequence Analysis of Human β-Globin Gene by the Quantification Method: Mutations in 3′-Splice Junction Sequence and β-Thalassemia

• Published in: Journal of biochemistry (Tokyo) 1990-12, Vol.108 (6), p.934-937
• Main Author: IIDA, Y
• Format: Article
• Language: English
• Subjects: Base Sequence; Biological and medical sciences; Fundamental and applied biological sciences. Psychology; Genes. Genome; Globins - genetics; Humans; Introns; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Mutation; RNA Splicing; RNA, Messenger - metabolism; Thalassemia - genetics
• ISSN: 0021-924X; 1756-2651
• DOI: 10.1093/oxfordjournals.jbchem.a123317

The nucleotide sequence at the intron-exon junction in the human β-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 β-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.