• 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

通过变性梯度凝胶电泳对Gγ珠蛋白基因5'侧翼序列进行分析,证实了班图βS单倍型的异质性。

Analysis of the 5' flanking sequence of the G gamma globin gene by denaturing gradient gel electrophoresis confirms the heterogeneity of the Bantu beta S haplotype.

作者信息

Tachdjian G, Benabdennebi M, Guidal C, Sayada C, Lapouméroulie C, Elion J

机构信息

Laboratoire de Biochimie Génétique, Hôpital Robert Debré, Paris, France.

出版信息

Hum Genet. 1992 Sep-Oct;90(1-2):23-6. doi: 10.1007/BF00210740.

DOI:10.1007/BF00210740
PMID:1358788
Abstract

The GC-->TT polymorphism recently described at positions -1106 and -1105 in the 5' flanking region of the G gamma globin gene for the Bantu beta S haplotype was analysed by denaturing gradient gel electrophoresis. We studied 108 beta S chromosome and 122 beta A chromosomes. The TT sequence was found as follows: in all of 80 chromosomes bearing the Bantu beta S haplotype with the 6-bp deletion -400 nt from the G gamma gene in 3 out of 5 Bantu beta S chromosomes without the deletion, in 1 out of 122 beta A chromosomes from different ethnic origins but in none of 23 beta S chromosomes bearing the Senegal, Benin or Cameroon haplotypes. These results confirm the heterogeneity of the Bantu beta S haplotype and allow a tentative evolutionary sequence for the different alleles at this locus to be presented.

摘要

采用变性梯度凝胶电泳法分析了最近报道的班图βS单倍型Gγ珠蛋白基因5'侧翼区-1106和-1105位点的GC→TT多态性。我们研究了108条βS染色体和122条βA染色体。发现TT序列如下:在所有80条携带班图βS单倍型且Gγ基因缺失6bp(距Gγ基因-400nt)的染色体中,在5条无缺失的班图βS染色体中有3条,在122条来自不同种族的βA染色体中有1条,但在23条携带塞内加尔、贝宁或喀麦隆单倍型的βS染色体中均未发现。这些结果证实了班图βS单倍型的异质性,并给出了该位点不同等位基因的初步进化序列。

相似文献

1
Analysis of the 5' flanking sequence of the G gamma globin gene by denaturing gradient gel electrophoresis confirms the heterogeneity of the Bantu beta S haplotype.通过变性梯度凝胶电泳对Gγ珠蛋白基因5'侧翼序列进行分析,证实了班图βS单倍型的异质性。
Hum Genet. 1992 Sep-Oct;90(1-2):23-6. doi: 10.1007/BF00210740.
2
Atypical beta(s) haplotypes are generated by diverse genetic mechanisms.非典型β单倍型由多种遗传机制产生。
Am J Hematol. 2000 Feb;63(2):79-84. doi: 10.1002/(sici)1096-8652(200002)63:2<79::aid-ajh4>3.0.co;2-d.
3
A 6-bp deletion 5' to the G gamma globin gene in beta S chromosomes bearing the Bantu haplotype.携带班图单倍型的βS染色体上,位于Gγ珠蛋白基因5'端有一个6个碱基对的缺失。
Am J Hum Genet. 1990 Jul;47(1):161-3.
4
Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype.镰状细胞贫血患者的慢性炎症状态与HBB(*)S单倍型相关。
Cytokine. 2014 Feb;65(2):217-21. doi: 10.1016/j.cyto.2013.10.009. Epub 2013 Nov 27.
5
Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5' flanking and intragenic sequences of beta S and beta C genes.印度、非洲和地中海地区β-珠蛋白基因突变的起源与传播:βS和βC基因5'侧翼及基因内序列分析
Hum Biol. 1991 Jun;63(3):241-52.
6
DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation.位于β-珠蛋白基因5'端的一个负调控区中的DNA序列变异与βs突变的表型表达相关。
Blood. 1992 Feb 1;79(3):787-92.
7
A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia.在镰状细胞贫血中,一个基因转换位于Aγ基因的5'端,与班图单倍型处于连锁不平衡状态。
J Clin Invest. 1989 Jun;83(6):2070-3. doi: 10.1172/JCI114118.
8
Analysis of 5' flanking regions of the gamma globin genes from major African haplotype backgrounds associated with sickle cell disease.对与镰状细胞病相关的主要非洲单倍型背景的γ珠蛋白基因5'侧翼区域的分析。
J Clin Invest. 1990 Feb;85(2):364-70. doi: 10.1172/JCI114447.
9
DNAase I hypersensitive site 3' to the beta-globin gene cluster contains a TAA insertion specific for beta(S)-Benin haplotype.β-珠蛋白基因簇3'端的DNA酶I超敏位点包含一个β(S)-贝宁单倍型特有的TAA插入。
Haematologica. 2002 Mar;87(3):246-9.
10
Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype.携带βS/贝宁单倍型的镰状细胞贫血染色体分子异质性的证据。
Am J Hematol. 2005 Sep;80(1):79-80. doi: 10.1002/ajh.20400.

本文引用的文献

1
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.非洲镰状细胞血红蛋白基因多中心起源的证据。
Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771-3. doi: 10.1073/pnas.81.6.1771.
2
The molecular genetics of human hemoglobin.人类血红蛋白的分子遗传学
Prog Nucleic Acid Res Mol Biol. 1984;31:315-462. doi: 10.1016/s0079-6603(08)60382-7.
3
The -158 site 5' to the G gamma gene and G gamma expression.γ珠蛋白基因5'端的-158位点与γ珠蛋白表达。
Blood. 1985 Dec;66(6):1463-5.
4
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation.βS-珠蛋白基因单倍型的地理调查:镰状细胞突变亚洲独立起源的证据。
Am J Hum Genet. 1986 Aug;39(2):239-44.
5
Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction.DNA的体外特异性酶促扩增:聚合酶链反应
Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:263-73. doi: 10.1101/sqb.1986.051.01.032.
6
Detection and localization of single base changes by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测和定位单碱基变化
Methods Enzymol. 1987;155:501-27. doi: 10.1016/0076-6879(87)55033-9.
7
Detection of human DNA polymorphisms with a simplified denaturing gradient gel electrophoresis technique.采用简化的变性梯度凝胶电泳技术检测人类DNA多态性。
Proc Natl Acad Sci U S A. 1987 May;84(10):3339-43. doi: 10.1073/pnas.84.10.3339.
8
A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia.在镰状细胞贫血中,一个基因转换位于Aγ基因的5'端,与班图单倍型处于连锁不平衡状态。
J Clin Invest. 1989 Jun;83(6):2070-3. doi: 10.1172/JCI114118.
9
Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.人凝血因子IX催化结构域的突变:通过对显示熔解行为改变的DNA片段进行直接基因组测序进行快速鉴定。
Genomics. 1989 Apr;4(3):266-72. doi: 10.1016/0888-7543(89)90330-3.
10
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.通过聚合酶链反应将一段40个碱基对的富含G + C的序列(GC夹)连接到基因组DNA片段上,可提高对单碱基变化的检测。
Proc Natl Acad Sci U S A. 1989 Jan;86(1):232-6. doi: 10.1073/pnas.86.1.232.