The Journal of Biochemistry
Online ISSN : 1756-2651
Print ISSN : 0021-924X
Nucleotide Sequence Analysis of Human β-Globin Gene by the Quantification Method: Mutations in 3'-Splice Junction Sequence and β-Thalassemia
Yôichi Iida
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1990 Volume 108 Issue 6 Pages 934-937

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Abstract

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.

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© The Japanese Biochemical Society
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