重复后再缺失构成了一个印度缺失型β（0）-地中海贫血基因的结构。
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.
作者信息
Spritz R A, Orkin S H
出版信息
Nucleic Acids Res. 1982 Dec 20;10(24):8025-9. doi: 10.1093/nar/10.24.8025.
Abstract
Nucleotide sequence analysis of a cloned deletion beta-globin gene from a patient with beta(0)-thalassemia demonstrates a 619 nucleotide deletion extending from the 3' third of the second intervening sequence through 209 bases of 3' flanking DNA. However, an additional novel heptanucleotide was identified between the deletion endpoints, suggesting a complex etiology for this rearrangement.
摘要
对一名β⁰-地中海贫血患者克隆的缺失型β-珠蛋白基因进行核苷酸序列分析，结果显示有一个619个核苷酸的缺失，该缺失从第二个内含子序列的3'端三分之一处延伸至3'侧翼DNA的209个碱基。然而，在缺失端点之间发现了一个额外的新型七核苷酸，这表明这种重排的病因复杂。
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本文引用的文献
1
beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.一名库尔德犹太人的β地中海贫血。TATA框中的单碱基变化。
J Biol Chem. 1982 Jun 10;257(11):5994-6.
2
Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.在克隆的β珠蛋白基因中检测到的β0地中海贫血中的无义突变和移码突变。
J Biol Chem. 1981 Oct 10;256(19):9782-4.
3
The structure and evolution of the human beta-globin gene family.人类β-珠蛋白基因家族的结构与进化
Cell. 1980 Oct;21(3):653-68. doi: 10.1016/0092-8674(80)90429-8.
4
Mutation in an intervening sequence splice junction in man.人类中间序列剪接连接处的突变。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5041-5. doi: 10.1073/pnas.78.8.5041.
5
Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.一名β⁺地中海贫血患者β珠蛋白基因大间隔序列中的五个核苷酸变化。
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6
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.人类β-珠蛋白基因簇中β-地中海贫血突变及β-珠蛋白基因多态性与DNA多态性的连锁关系
Nature. 1982 Apr 15;296(5858):627-31. doi: 10.1038/296627a0.
7
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10
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J Clin Invest. 1981 Oct;68(4):915-9. doi: 10.1172/jci110346.
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