期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

多重荧光定量PCR快速检测缺失型α地中海贫血 被引量：3

下载PDF
导出
摘要 目的采用多重荧光定量PCR技术快速检测缺失型α地中海贫血(以下简称α地贫),初步评价其诊断性能,并探讨该体系应用于临床基因诊断的可行性。方法采用多重荧光定量PCR体系检测300份,采用gap-PCR和β地中海贫血(以下简称β地贫)点突变反向点杂交法确定基因型的正常及地中海贫血标本,其中150例为α地贫标本,100例基因型为αα/αα的正常样本,50例为β地贫标本。结果多重荧光定量PCR在150例α地贫样本及100例正常样本的检测结果与gap-PCR符合率均达到100%,50例β地贫标本,有49例检测结果与gap-PCR一致,有1例gap-PCR报告为αα/αα的标本,多重荧光定量PCR报告为α1以及α2各仅有一个拷贝,经多重连接探针扩增技术证实为--THAI/αα。结论多重荧光定量PCR是一种快速、简便和可靠的缺失型α地中海贫血检测技术。
作者 彭建明 陈艳玲 官燕飞 袁春雷 张艳芳 范汉恭
机构地区 广东省中山市博爱医院检验科 广东省中山市博爱医院儿科 广东省中山市博爱医院产前诊断中心
出处 《广东医学》 CAS CSCD 北大核心 2013年第8期1195-1196,共2页 Guangdong Medical Journal
基金 广东省医学科研基金资助项目(编号:A2012824) 广东省中山市科技计划项目(编号:20122A079)
关键词 TAQMAN探针 缺失型 Α地中海贫血 多重荧光定量PCR
分类号 R394.33 [医药卫生—医学遗传学]
  • 相关文献

参考文献5

  • 1XU X M, ZHOU Y Q, LUO G X, et al. The prevalence and spec- trum of alpha and beta thalassaemia in Guangdong Province : impli- cations for the future health burden and population screening[ J ]. J Clin Pathol, 2004, 57(5) : 517 -522.
  • 2CHONG S S, BOEHM C D, HIGGS D R, et al. Single-tube multiplex -PCR screen for common deletional determinants of al- pha - thalassemia[ J ]. Blood, 2000, 95 ( 1 ) : 360 - 362.
  • 3闫梅,王立荣,王战勇,周艳,梁燕,肖白,刘敬忠.用SYBR-GreenⅠ实时荧光PER结合融解曲线分析法诊断α-地中海贫血[J].中华医学遗传学杂志,2007,24(2):192-195. 被引量：7
  • 4ZHOU W J, LIU W Y, LIU D, et al. A quantitative assay to de- tect c - thalassemia deletions and triplications using multiplex nes- ted real- time quantitative polymerase chain reaction [ J ]. Anal Biochem, 2012, 427(2) : 144 - 150.
  • 5LIVAK K J, SCHMITYGEN T D. Analysis of relative gene expres- sion data using real- time quantitative PCR and the 2- a ac, meth- od[J]. Methods, 2001,25(4) : 402 -408.

二级参考文献9

  • 1刘敬忠,闫梅,王立荣,王战勇,周艳,肖白.实时荧光聚合酶链反应结合融解曲线分析在α-地中海贫血基因诊断中的价值[J].中华检验医学杂志,2005,28(8):858-861. 被引量：12
  • 2Kazazian HH Jr. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol,1990,27:209-228.
  • 3Cai R, Liu JZ, Wang LR, et al. Study on molecular epidemiology of the α- thalassemia in Liuzhou city of Guangxi autonomous region China. Hemoglobin, 2004,28:325-333.
  • 4Baysal E, Huisman TH. Detection of common deletional α-thalassemia-2 detemfinants by PCR. Am J Hematol, 1994,46:208-213.
  • 5Liu JZ, Ou CY, Wang LR, et al. Detection of three common deletional alpha-thalassemia determinants in southern China by a single tube multiplex polymerase chain reaction method. Hemoglobin,2004,28:39-44.
  • 6Livak KJ, Flood SJ, Marmaro J, et al. Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. PCR Methods Applic, 1995,4:357-362.
  • 7Ririe KM, Rasmussen RP, Wittwer CT. Product differentiation by analysis of DNA melting curves during the polymerase chain reaction. Analytical Biochem, 1997,245:154-160.
  • 8刘敬忠,周桔,王立荣,周艳.两种常见缺失型α-地中海贫血快速检测技术的研究[J].中华检验医学杂志,2001,24(6):333-335. 被引量：8
  • 9刘敬忠,谭淑珍,吴燕,何蕴韶,肖白,周艳,雷箴,闫梅,邵伟.荧光定量聚合酶链反应检测乙型肝炎病毒DNA[J].中华微生物学和免疫学杂志,2001,21(6):690-692. 被引量：15

共引文献6

同被引文献46

  • 1张新华,周英杰,李平萍,罗瑞贵,阮丽明,王荣新,吴志奎,李敏,黄有文.广西南宁市农村育龄人群地中海贫血筛查及基因型和血液学参数分析[J].中华流行病学杂志,2006,27(9):769-772. 被引量：94
  • 2Qadah T,Finlayson J,Newbound C. A molecular tool to assess the pathological relevance of alpha-globin DNA variants[J].{H}PATHOLOGY,2012,(04):337-341.
  • 3Rahimi Z,Muniz A,Parsian A. Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques[J].{H}MOLECULAR BIOLOGY REPORTS,2010,(01):149-154.
  • 4Hung CC,Chen SU,Lin SY. Preimplantation genetic diagno sis of beta-thalassemia using real-time polymerase chain reaction with fluorescence resonance energy transfer hy bridization probes[J].Anal giochem,2010,(01):69-77.
  • 5I.iu J,Jia X,Tang N. Novel technique for rapid detection of alpha-globin gene mutations and deletions[J].{H}TRANSLATIONAL RESEARCH,2010,(03):148-155.
  • 6Nezhat N,Akbari MT. Detection of deletions/duplications in α-globin gene cluster by multiplex ligation-dependent probe amplification[J].Genet Test Mol Biomarkers,2012,(07):684-688.
  • 7Li R,Liao C,Li D. High-resolution melting analysis of the three common nondeletional α-thalassemia mutations in the chi nese population.HBs constant spring,quong sze and westmead[J].{H}HEMOGLOBIN,2010,(06):587-593.
  • 8Sirichotiyakul S,Wanapirak C,Saetung R. High resolution DNA melting analysis:an application for prenatal control of thalassemia[J].{H}Prenatal Diagnosis,2010,(04):348-351.
  • 9Prajantasen T,Fucharoen S,Fucharoen G. Prenatal and post-natal screening of β-thalassemia and hemoglobin E genes in Thailand using denaturing high performance liquid chromatography[J].{H}MOLECULAR BIOLOGY REPORTS,2013,(04):3173-3179.
  • 10Li Q,Li LY,Huang SW. Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes[J].{H}CLINICAL BIOCHEMISTRY,2008,(09):681-687.

引证文献3

二级引证文献15

广东医学
2013年 第8期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部