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

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 cont...

Full description

Saved in:
Bibliographic Details
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
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0021-924X
1756-2651
DOI:10.1093/oxfordjournals.jbchem.a123317