• 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

Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system.

作者信息

Lacerra Giuseppina, Musollino Gennaro, Di Noce Francesca, Prezioso Romeo, Carestia Clementina

出版信息

Haematologica. 2007 Feb;92(2):254-5. doi: 10.3324/haematol.10736.

DOI:10.3324/haematol.10736
PMID:17296579
Abstract

We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine assay for the detection of alpha1 Hb J-Oxford and -alpha3.7 -AC. The method is reproducible, reliable, simple, rapid, inexpensive and provides genotype diagnosis in >70% of point-mutation carriers in Mediterranean countries. Moreover, it allows investigation of the structure of mutated alleles by sequencing ARMS-amplicons.

摘要

相似文献

1
Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system.
Haematologica. 2007 Feb;92(2):254-5. doi: 10.3324/haematol.10736.
2
Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.使用单管多重扩增不应性突变系统（ARMS）检测重度非缺失型α地中海贫血突变
Genet Test. 2001 Winter;5(4):327-9. doi: 10.1089/109065701753617471.
3
[Genetic screening for alpha-thalassemia deletional determinants by GapPCR method].[采用缺口聚合酶链反应法对α地中海贫血缺失型决定因素进行基因筛查]
Rinsho Byori. 2006 Nov;54(11):1095-100.
4
Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.运用多重连接依赖探针扩增技术在中国检测α地中海贫血
Hemoglobin. 2008;32(6):561-71. doi: 10.1080/03630260802508111.
5
[A study on gene mutation spectrums of α- and β-thalassemias in populations of Yunnan Province and the prenatal gene diagnosis].云南省人群α和β地中海贫血基因突变谱及产前基因诊断研究
Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):85-9.
6
Molecular diagnosis of α-thalassemia in a multiethnic population.多民族人群中α地中海贫血的分子诊断
Eur J Haematol. 2017 Jun;98(6):553-562. doi: 10.1111/ejh.12866. Epub 2017 Apr 6.
7
A rapid detection for α-thalassemia by PCR combined with dissociation curve analysis.PCR 结合解链曲线分析快速检测α-地中海贫血。
Exp Mol Pathol. 2011 Oct;91(2):626-30. doi: 10.1016/j.yexmp.2011.06.013. Epub 2011 Jul 23.
8
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions.用于同时分析常见α地中海贫血点突变和缺失的反向杂交条带分析法的验证
Clin Chem Lab Med. 2007;45(5):605-10. doi: 10.1515/CCLM.2007.125.
9
[Detection of beta thalassemia by the technique of refractory amplification of mutation systems (ARMS-PCR)].应用突变体系扩增受阻技术（ARMS-PCR）检测β地中海贫血
Invest Clin. 1999 Sep;40(3):203-13.
10
Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.伊朗西南部胡齐斯坦省不同种族群体中α-珠蛋白基因突变的评估
Hemoglobin. 2016;40(2):113-7. doi: 10.3109/03630269.2015.1130720. Epub 2016 Feb 15.

引用本文的文献

1
Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.对巴基斯坦重型β地中海贫血患者血红蛋白基因的突变分析，并通过计算机分析对检测到的变异进行功能表征。
Sci Rep. 2023 Aug 14;13(1):13236. doi: 10.1038/s41598-023-35481-1.
2
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.三种新的涉及 MCS-R2 的α-地中海贫血缺失的功能分析显示，在 5'边界区域存在一个额外的增强子元件。
PLoS Genet. 2023 May 22;19(5):e1010727. doi: 10.1371/journal.pgen.1010727. eCollection 2023 May.
3
Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.
用于地中海贫血诊断的下一代测序（NGS）和第三代测序（TGS）
Diagnostics (Basel). 2023 Jan 19;13(3):373. doi: 10.3390/diagnostics13030373.
4
mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)].最后一个外显子中带有终止密码子的移码突变的mRNA分析：以坎帕尼亚血红蛋白[α1 cod95（-C）]和锡亚卡血红蛋白[α1 cod109（-C）]为例。
Biomedicines. 2021 Oct 4;9(10):1390. doi: 10.3390/biomedicines9101390.
5
Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.突变对 mRNA 和珠蛋白稳定性的影响：Hb Bernalda/Groene Hart 和 Hb 意大利南部的案例。
Genes (Basel). 2020 Jul 31;11(8):870. doi: 10.3390/genes11080870.
6
Accurate Detection of Hepatitis B Virus G1896A Mutant by Developed Taqman-ARMS Followed a Strict Control System.通过开发的Taqman-ARMS并遵循严格的控制系统准确检测乙型肝炎病毒G1896A突变体。
J Clin Lab Anal. 2016 Jul;30(4):315-8. doi: 10.1002/jcla.21857. Epub 2015 May 13.
7
α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.与血红蛋白不稳定相关的α地中海贫血：两个特征的故事。罗利亚诺血红蛋白或α1密码子108（G15）苏氨酸→天冬酰胺以及波利科罗血红蛋白或α2密码子124（H7）丝氨酸→脯氨酸的病例
PLoS One. 2015 Mar 2;10(3):e0115738. doi: 10.1371/journal.pone.0115738. eCollection 2015.
8
Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.在伊朗南部对一种新的ATP7B基因突变（c.2335T>G）进行家族筛查。
Iran J Ped Hematol Oncol. 2014;4(1):26-31. Epub 2014 Feb 20.
9
Detection of hepatitis B virus A1762T/G1764A mutant by amplification refractory mutation system.扩增受阻突变系统检测乙型肝炎病毒 A1762T/G1764A 突变。
Braz J Infect Dis. 2014 May-Jun;18(3):261-5. doi: 10.1016/j.bjid.2013.09.005. Epub 2014 Jan 3.
10
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.多重扩增不应变位点PCR检测肝豆状核变性患者ATP7B基因8种常见突变
Hepat Mon. 2013 May 16;13(5):e8375. doi: 10.5812/hepatmon.8375. eCollection 2013.