• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

人类β珠蛋白基因5'端的重复/缺失多态性。

Duplication/deletion polymorphism 5' - to the human beta globin gene.

作者信息

Spritz R A

出版信息

Nucleic Acids Res. 1981 Oct 10;9(19):5037-47. doi: 10.1093/nar/9.19.5037.

DOI:10.1093/nar/9.19.5037
PMID:7312624
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC327497/
Abstract

DNA sequence analysis of the human beta globin locus has identified an array of simple tandem repeated sequences upstream from the beta globin structural gene. Comparison of several cloned human beta globin alleles demonstrated a high frequency of sequence heteromorphism at this site apparently due to duplication or deletion of single units of the repeat array. At least two such duplication/deletion events are necessary to account for the observed variation. No other sequence variation was observed, suggesting that duplication/deletion events within the tandem repeat array may be at least 13 to 14 times more frequent than nucleotide substitutions in the surrounding DNA.

摘要

对人类β珠蛋白基因座的DNA序列分析已确定在β珠蛋白结构基因上游存在一系列简单串联重复序列。对几个克隆的人类β珠蛋白等位基因的比较表明，该位点序列多态性的频率很高，这显然是由于重复序列阵列的单个单元发生了重复或缺失。至少需要两个这样的重复/缺失事件才能解释观察到的变异。未观察到其他序列变异，这表明串联重复序列阵列中的重复/缺失事件的发生频率可能比周围DNA中的核苷酸替换至少高13至14倍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c9b/327497/8aa4bf143e60/nar00412-0242-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c9b/327497/8aa4bf143e60/nar00412-0242-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c9b/327497/8aa4bf143e60/nar00412-0242-a.jpg

相似文献

1
Duplication/deletion polymorphism 5' - to the human beta globin gene.人类β珠蛋白基因5'端的重复/缺失多态性。
Nucleic Acids Res. 1981 Oct 10;9(19):5037-47. doi: 10.1093/nar/9.19.5037.
2
Repetitive DNA sequences near three human beta-type globin genes.三种人类β-珠蛋白基因附近的重复DNA序列。
Nucleic Acids Res. 1980 Aug 11;8(15):3319-33. doi: 10.1093/nar/8.15.3319.
3
Cloning and characterization of DNA sequences surrounding the human gamma-, delta-, and beta-globin genes.人类γ-、δ-和β-珠蛋白基因周围DNA序列的克隆与特性分析。
Proc Natl Acad Sci U S A. 1980 Jul;77(7):4229-33. doi: 10.1073/pnas.77.7.4229.
4
The adult alpha-globin locus of Old World monkeys: an abrupt breakdown of sequence similarity to human is defined by an Alu family repeat insertion site.旧世界猴的成年α-珠蛋白基因座：Alu家族重复序列插入位点界定了与人类序列相似性的突然中断。
J Mol Evol. 1991 Dec;33(6):506-13. doi: 10.1007/BF02102803.
5
Evolution of the primate beta-globin gene region. High rate of variation in CpG dinucleotides and in short repeated sequences between man and chimpanzee.灵长类动物β-珠蛋白基因区域的进化。人类与黑猩猩之间CpG二核苷酸和短重复序列的高变异率。
J Mol Biol. 1985 Mar 5;182(1):21-9. doi: 10.1016/0022-2836(85)90024-5.
6
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.
7
Detection of deletions, insertions and single nucleotide substitutions in cloned beta-globin genes and new polymorphic nucleotide substitutions in beta-globin genes in a Japanese population using ribonuclease cleavage at mismatches in RNA:DNA duplexes.利用核糖核酸酶对RNA:DNA双链体错配处的切割作用，检测日本人群中克隆的β-珠蛋白基因的缺失、插入和单核苷酸替换以及β-珠蛋白基因中的新多态性核苷酸替换。
Mutat Res. 1990 Aug;231(2):219-31. doi: 10.1016/0027-5107(90)90028-3.
8
The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.人类β-珠蛋白基因5'侧翼区的DNA序列：进化保守性与多态性差异
Nucleic Acids Res. 1982 Mar 25;10(6):2109-20. doi: 10.1093/nar/10.6.2109.
9
Duplication of the gamma-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates.在猿猴灵长类动物的一个早期祖先中，由L1长散布重复元件介导的γ-珠蛋白基因复制。
Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7396-400. doi: 10.1073/pnas.88.16.7396.
10
Tetra-/di-nucleotide repeat polymorphism upstream of the human alpha 2-globin gene locus at 16p13.3.位于16p13.3的人类α2-珠蛋白基因座上游的四核苷酸/二核苷酸重复多态性
Hum Genet. 1995 May;95(5):593. doi: 10.1007/BF00223879.

引用本文的文献

1
Approximating edit distances between complex tandem repeats efficiently.高效近似复杂串联重复序列之间的编辑距离。
Bioinformatics. 2025 Mar 29;41(4). doi: 10.1093/bioinformatics/btaf155.
2
A landscape of complex tandem repeats within individual human genomes.个体人类基因组内复杂串联重复的景观。
Nat Commun. 2023 Sep 14;14(1):5530. doi: 10.1038/s41467-023-41262-1.
3
Decomposing mosaic tandem repeats accurately from long reads.从长读中准确分解镶嵌串联重复序列。

本文引用的文献

1
THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION.有限种群中能够维持的等位基因数量。
Genetics. 1964 Apr;49(4):725-38. doi: 10.1093/genetics/49.4.725.
2
ENZYMATIC SYNTHESIS OF DEOXYRIBONUCLEIC ACID, XVI. OLIGONUCLEOTIDES AS TEMPLATES AND THE MECHANISM OF THEIR REPLICATION.脱氧核糖核酸的酶促合成，十六。作为模板的寡核苷酸及其复制机制。
Proc Natl Acad Sci U S A. 1964 Feb;51(2):315-23. doi: 10.1073/pnas.51.2.315.
3
Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.
Bioinformatics. 2023 Apr 3;39(4). doi: 10.1093/bioinformatics/btad185.
4
Performance comparison of gel and capillary electrophoresis-based microsatellite genotyping strategies in a population research and kinship testing framework.凝胶电泳和毛细管电泳微卫星基因分型策略在人群研究和亲缘关系鉴定框架中的性能比较。
BMC Res Notes. 2021 Dec 7;14(1):444. doi: 10.1186/s13104-021-05861-9.
5
Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.镰状细胞贫血中的胎儿血红蛋白：阿拉伯-印度单倍型的遗传研究。
Blood Cells Mol Dis. 2013 Jun;51(1):22-6. doi: 10.1016/j.bcmd.2012.12.005. Epub 2013 Mar 7.
6
Construction of a cytogenetically anchored microsatellite map in rabbit.构建兔的细胞遗传学定位微卫星图谱。
Mamm Genome. 2005 Jun;16(6):442-59. doi: 10.1007/s00335-005-2471-z.
7
Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.为什么有些遗传疾病很常见？通过对珠蛋白基因变异进行分子分析来区分选择与其他过程。
Hum Genet. 1993 Mar;91(2):91-117. doi: 10.1007/BF00222709.
8
Meiotic recombination in an Irish family with beta-thalassaemia.一个患有β地中海贫血的爱尔兰家庭中的减数分裂重组
Hum Genet. 1993 Aug;92(1):28-32. doi: 10.1007/BF00216141.
9
A pentanucleotide repeat polymorphism in the 5' control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians.载脂蛋白(a)基因5'调控区的五核苷酸重复多态性与白种人的血浆脂蛋白(a)浓度相关。
J Clin Invest. 1995 Jul;96(1):150-7. doi: 10.1172/JCI118015.
10
The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.人类β-珠蛋白基因5'侧翼区的DNA序列：进化保守性与多态性差异
Nucleic Acids Res. 1982 Mar 25;10(6):2109-20. doi: 10.1093/nar/10.6.2109.
人类胎儿Gγ-和Aγ-珠蛋白基因：完整的核苷酸序列表明，这些重复基因之间可发生DNA交换。
Cell. 1980 Oct;21(3):627-38. doi: 10.1016/0092-8674(80)90426-2.
4
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.
5
Triplicated alpha-globin loci in humans.人类中的三重α-珠蛋白基因座。
Proc Natl Acad Sci U S A. 1980 Jan;77(1):518-21. doi: 10.1073/pnas.77.1.518.
6
Repetitive sequences in class-switch recombination regions of immunoglobulin heavy chain genes.免疫球蛋白重链基因类别转换重组区域中的重复序列。
Cell. 1981 Feb;23(2):357-68. doi: 10.1016/0092-8674(81)90131-8.
7
DNA sequences mediating class switching in alpha-immunoglobulins.介导α-免疫球蛋白类别转换的DNA序列。
Science. 1980 Sep 19;209(4463):1360-5. doi: 10.1126/science.6774415.
8
Two types of somatic recombination are necessary for the generation of complete immunoglobulin heavy-chain genes.产生完整的免疫球蛋白重链基因需要两种类型的体细胞重组。
Nature. 1980 Aug 14;286(5774):676-83. doi: 10.1038/286676a0.
9
An immunoglobulin deletion mutant with implications for the heavy-chain switch and RNA splicing.一种对重链转换和RNA剪接有影响的免疫球蛋白缺失突变体。
Nature. 1980 Aug 14;286(5774):669-75. doi: 10.1038/286669a0.
10
Organization and complete sequence of identical embryonic and plasmacytoma kappa V-region genes.相同胚胎和浆细胞瘤κ轻链可变区基因的组织与完整序列
J Biol Chem. 1980 Apr 25;255(8):3691-4.