剪接信号序列的定量分析。地中海贫血β-珠蛋白基因中的外显子跳跃。
Quantification analysis of splice signal sequences. Exon skipping in beta-globin gene of thalassemia.
作者信息
Iida Y
机构信息
Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.
出版信息
Nucleic Acids Symp Ser. 1993(29):161-2.
PMID:8247751
Abstract
Nucleotide sequences of human beta-globin and its mutant genes were analyzed by quantification method. In the mutant, a GT-->AT change occurs at the 5'-splice site of the second intron, causing skipping of the whole second exon during RNA splicing. A mechanism of exon skipping was proposed on the basis of the intensity of 3'-splice signal sequence.
摘要
采用定量方法分析了人β-珠蛋白及其突变基因的核苷酸序列。在该突变体中，第二个内含子的5'-剪接位点发生了GT→AT的变化，导致在RNA剪接过程中整个第二个外显子被跳过。基于3'-剪接信号序列的强度提出了外显子跳跃的机制。
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