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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.

DOI:10.1093/nar/10.24.8025
PMID:7162987
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC327067/
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。

相似文献

1
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.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。
Nucleic Acids Res. 1982 Dec 20;10(24):8025-9. doi: 10.1093/nar/10.24.8025.
2
Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.β地中海贫血中一个短缺失导致受体RNA剪接位点失活。
J Biol Chem. 1983 Jun 25;258(12):7249-51.
3
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。
Nucleic Acids Res. 1982 Feb 25;10(4):1283-94. doi: 10.1093/nar/10.4.1283.
4
Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.某些β0地中海贫血患者中β-珠蛋白基因DNA的部分缺失。
Proc Natl Acad Sci U S A. 1979 May;76(5):2400-4. doi: 10.1073/pnas.76.5.2400.
5
Structure of cloned delta-globin genes from a normal subject and a patient with delta-thalassemia; sequence polymorphisms found in the delta-globin gene region of Japanese individuals.来自一名正常人和一名δ地中海贫血患者的克隆δ珠蛋白基因的结构；在日本个体的δ珠蛋白基因区域发现的序列多态性。
Nucleic Acids Res. 1982 Oct 11;10(19):5725-32. doi: 10.1093/nar/10.19.5725.
6
Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene.
Proc Natl Acad Sci U S A. 1980 Jun;77(6):3558-62. doi: 10.1073/pnas.77.6.3558.
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Analysis of an inversion within the human beta globin gene cluster.人类β珠蛋白基因簇内一个倒位的分析。
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[A novel Chinese beta-thalassemia mutation--4bp deletion (AAAC) downstream from the cap site].一种新的中国β地中海贫血突变——帽位点下游4bp缺失（AAAC）
Zhonghua Yi Xue Za Zhi. 1991 Apr;71(4):205-7, 16.
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Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.由1.4千碱基缺失导致的β0地中海贫血的分子特征分析
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DNA sequence analysis of the Dutch beta zero-thalassemia deletion.荷兰β0型地中海贫血缺失的DNA序列分析
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引用本文的文献

1
Revisiting a Complex Rearrangement Involving a 619 Base Pairs Deletion, 6 Nucleotide Insertion Followed by a A > G Substitution Causing β°-Thalassemia.重新审视一个复杂的重排，该重排涉及619个碱基对的缺失、6个核苷酸的插入，随后是一个导致β°地中海贫血的A>G替换。
Indian J Hematol Blood Transfus. 2016 Dec;32(4):500-503. doi: 10.1007/s12288-016-0682-y. Epub 2016 May 26.
2
Non-homologous DNA end joining in plant cells is associated with deletions and filler DNA insertions.植物细胞中的非同源DNA末端连接与缺失和填充DNA插入有关。
Nucleic Acids Res. 1997 Nov 15;25(22):4650-7. doi: 10.1093/nar/25.22.4650.
3
DNA alterations detected in the progeny of paternally irradiated Japanese medaka fish (Oryzias latipes).在经父系辐射的日本青鳉鱼（Oryzias latipes）后代中检测到的DNA改变。
Proc Natl Acad Sci U S A. 1995 Jan 3;92(1):330-4. doi: 10.1073/pnas.92.1.330.
4
Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.菲律宾β0地中海贫血：一种由5'β珠蛋白基因区域大片段缺失导致的高Hb A2β0地中海贫血。
J Med Genet. 1993 Mar;30(3):240-4. doi: 10.1136/jmg.30.3.240.
5
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.亚洲印度人中七种β地中海贫血突变的分子特征分析
EMBO J. 1984 Mar;3(3):593-6. doi: 10.1002/j.1460-2075.1984.tb01853.x.
6
The thalassemias: molecular mechanisms of human genetic disease.地中海贫血：人类遗传疾病的分子机制
Am J Hum Genet. 1983 May;35(3):333-61.
7
Analysis of an inversion within the human beta globin gene cluster.人类β珠蛋白基因簇内一个倒位的分析。
Nucleic Acids Res. 1985 Apr 25;13(8):2897-906. doi: 10.1093/nar/13.8.2897.
8
DNA polymorphism and molecular pathology of the human globin gene clusters.人类珠蛋白基因簇的DNA多态性与分子病理学
Hum Genet. 1985;69(1):1-14. doi: 10.1007/BF00295521.
9
Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.由5'β-珠蛋白基因区域大片段缺失引起的非典型β-地中海贫血的分子特征
Am J Hum Genet. 1986 Dec;39(6):797-810.
10
Structures of spontaneous deletions in Caenorhabditis elegans.秀丽隐杆线虫中自发缺失的结构
Mol Cell Biol. 1988 Sep;8(9):3748-54. doi: 10.1128/mcb.8.9.3748-3754.1988.

本文引用的文献

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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。
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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。
Nucleic Acids Res. 1982 Feb 25;10(4):1283-94. doi: 10.1093/nar/10.4.1283.
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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
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.β-珠蛋白基因簇中多态性限制性位点的非随机关联。
Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
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Structure and expression of a cloned beta o thalassaemic globin gene.一个克隆的β地中海贫血球蛋白基因的结构与表达
Nucleic Acids Res. 1981 Sep 11;9(17):4391-401. doi: 10.1093/nar/9.17.4391.
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A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.人类β-珠蛋白基因剪接位点处的核苷酸变化与β0-地中海贫血相关。
Proc Natl Acad Sci U S A. 1981 Jul;78(7):4218-21. doi: 10.1073/pnas.78.7.4218.
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A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.人类β-珠蛋白基因中的一种新的多态性，可用于产前诊断。
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