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Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia.
J Biochem. 1990 Dec; 108(6):934-7.JB

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+Show Affiliations

Department of Chemistry, Faculty of Science, Hokkaido University.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

2089040

Citation

Iida, Y. "Nucleotide Sequence Analysis of Human Beta-globin Gene By the Quantification Method: Mutations in 3'-splice Junction Sequence and Beta-thalassemia." Journal of Biochemistry, vol. 108, no. 6, 1990, pp. 934-7.
Iida Y. Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia. J Biochem. 1990;108(6):934-7.
Iida, Y. (1990). Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia. Journal of Biochemistry, 108(6), 934-7.
Iida Y. Nucleotide Sequence Analysis of Human Beta-globin Gene By the Quantification Method: Mutations in 3'-splice Junction Sequence and Beta-thalassemia. J Biochem. 1990;108(6):934-7. PubMed PMID: 2089040.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia. A1 - Iida,Y, PY - 1990/12/1/pubmed PY - 1990/12/1/medline PY - 1990/12/1/entrez SP - 934 EP - 7 JF - Journal of biochemistry JO - J Biochem VL - 108 IS - 6 N2 - 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. SN - 0021-924X UR - https://www.unboundmedicine.com/medline/citation/2089040/Nucleotide_sequence_analysis_of_human_beta_globin_gene_by_the_quantification_method:_mutations_in_3'_splice_junction_sequence_and_beta_thalassemia_ L2 - https://joi.jlc.jst.go.jp/JST.Journalarchive/biochemistry1922/108.934?lang=en&from=PubMed DB - PRIME DP - Unbound Medicine ER -