Iida Y
Department of Chemistry, Faculty of Science, Hokkaido University.
J Biochem. 1990 Dec;108(6):934-7.
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.
采用先前提出的定量方法（分类判别分析）对人类β-珠蛋白基因内含子-外显子交界处的核苷酸序列进行了分析。利用3'-剪接连接处16个核苷酸序列的样本得分，我们研究了该序列在多大程度上包含3'-剪接信号。为检验我们方法的适用性，我们进一步研究了几种β-地中海贫血突变体，这些突变体在第一和第二内含子的3'-剪接连接序列处存在核苷酸变化。其他突变体涉及点突变，这些点突变在第一内含子内产生新的3'-剪接信号。根据16个核苷酸序列的样本得分及其相对于分支点的位置，可以解释这些突变体中异常剪接的实验结果。
