Iida Y
Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.
Nucleic Acids Symp Ser. 1990(22):37-8.
Nucleotide sequence of the exon-intron junction in human alpha-globin gene was analyzed by quantification method proposed previously. Using sample score of 9-nucleotide sequence at 5'-splice site, we examined strength of the splice signal. We further studied a mutant of alpha-thalassemia, where pentanucleotide deletion occurs around 5'-splice junction of the first intron. This mutation abolishes the normal 5'-splice site completely, but activates a cryptic site lying in the first exon. Such a behaviour was well explained in terms of our sample scoring scheme.
采用先前提出的定量方法分析了人类α-珠蛋白基因中外显子-内含子连接区的核苷酸序列。利用5'-剪接位点处9核苷酸序列的样本评分，我们检测了剪接信号的强度。我们进一步研究了一种α-地中海贫血突变体，其中在第一个内含子的5'-剪接连接处附近发生了五核苷酸缺失。这种突变完全消除了正常的5'-剪接位点，但激活了位于第一个外显子中的隐蔽位点。根据我们的样本评分方案，这种行为得到了很好的解释。
