Stolle C A, Payne M S, Benz E J
Blood. 1987 Jul;70(1):293-300.
Patients with beta zero thalassemia arising from premature terminator codon mutations in the gene for beta globin do not produce beta globin protein; these individuals also exhibit a decreased amount of beta globin mRNA in their erythroid cells. The absence of beta globin protein is readily explained by the inability of the beta zero-39 mRNA to be translated. The decrease in beta globin mRNA has been attributed to either decreased cytoplasmic stability of the nontranslatable decreased cytoplasmic stability of the nontranslatable mRNA or to an undefined nuclear lesion. To compare directly the relative stabilities of normal and beta zero-39 thalassemic globin transcripts, we prepared normal and thalassemic beta globin pre-mRNAs and mRNAs using cloned DNA templates and the SP6 promoter-polymerase system. The stability of the transcripts was assessed by incubation in various cell-free extracts. Our results indicate that although the stabilities of the beta globin transcripts varied considerably from one extract to another the stabilities of the beta zero-39 thalassemic pre-mRNAs and mRNAs were equal to those of normal beta globin mRNAs in every extract tested.
由β珠蛋白基因中的过早终止密码子突变引起的β0地中海贫血患者不产生β珠蛋白；这些个体的红系细胞中β珠蛋白mRNA的量也减少。β0 - 39 mRNA无法翻译，这很容易解释β珠蛋白的缺失。β珠蛋白mRNA的减少归因于不可翻译的mRNA细胞质稳定性降低，或者是一种未明确的核损伤。为了直接比较正常和β0 - 39地中海贫血珠蛋白转录本的相对稳定性，我们使用克隆的DNA模板和SP6启动子 - 聚合酶系统制备了正常和地中海贫血β珠蛋白前体mRNA和mRNA。通过在各种无细胞提取物中孵育来评估转录本的稳定性。我们的结果表明，尽管β珠蛋白转录本的稳定性在不同提取物之间差异很大，但在每个测试提取物中，β0 - 39地中海贫血前体mRNA和mRNA的稳定性与正常β珠蛋白mRNA的稳定性相同。
