β⁺地中海贫血人类珠蛋白基因间隔序列中的碱基置换。
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.
作者信息
Spritz R A, Jagadeeswaran P, Choudary P V, Biro P A, Elder J T, deRiel J K, Manley J L, Gefter M L, Forget B G, Weissman S M
出版信息
Proc Natl Acad Sci U S A. 1981 Apr;78(4):2455-9. doi: 10.1073/pnas.78.4.2455.
beta globin gene fragments from a patient with homozygous beta+-thalassemia have been cloned and subjected to restriction endonuclease, nucleotide sequence, and in vitro trancription analyses. Restriction endonuclease mapping of the cloned gene fragments revealed no deletions or other rearrangements, and transcription of the thalassemic gene appeared to be normal in vitro. However, nucleotide sequence analysis of the beta+-thalassemic gene fragments permitted identification of a single base change in the body of the small intervening sequence. This nucleotide change creates a sequence much like that of the 3' splice site of the small intervening sequence. The presence of a potential anomalous splicing site as a result of this base change suggests a mechanism for defective posttranscriptional processing of beta globin mRNA precursor molecules in beta+-thalassemia.
来自一名纯合β⁺地中海贫血患者的β珠蛋白基因片段已被克隆，并进行了限制性内切酶分析、核苷酸序列分析和体外转录分析。对克隆的基因片段进行限制性内切酶图谱分析，未发现缺失或其他重排，并且地中海贫血基因的转录在体外似乎是正常的。然而，对β⁺地中海贫血基因片段的核苷酸序列分析发现，小内含子序列主体中有一个单碱基变化。这种核苷酸变化产生了一个与小内含子序列3'剪接位点非常相似的序列。由于这种碱基变化而存在潜在的异常剪接位点，提示了β⁺地中海贫血中β珠蛋白mRNA前体分子转录后加工缺陷的一种机制。
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