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多重连接依赖性探针扩增技术及其应用进展 被引量：7

Advancement in the Application of Multiplex Ligation-dependent Probe Amplification
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摘要 多重连接依赖性探针扩增(MLPA)是一种高通量、针对待测核酸中靶序列进行定性和相对定量分析的新技术。该技术具有分辨率高、操作简便、设备要求低等诸多优势而广泛用于检测人类基因组内拷贝数变异(CNV)。近年来,MLPA在技术与应用上又有许多新的发展,如运用化学合成法制备3'、5'探针,MLPA在基因甲基化检测、基因表达水平分析、基因部分片段重复区域拷贝数分析及转基因基因分型中的应用,并且MLPA与基因芯片微阵列技术的结合,使得多重连接探针扩增真正具备了高通量检测能力。本文就MLPA技术及其应用进展作一综述。 Multiplex ligation-dependent probe amplification（MLPA） is a new qualitative and semiquantitative analysis technology,aiming at target nucleic acid sequence with high-throughput.This technology,with advantages of high resolution,simple operation,low equipment requirements,has been widely applied to detect human genome copy number variation（CNV） .In recent years,there are many new developments in the technology and applications of MLPA,such as the preparation of 3 ＇,5＇ probes by chemical synthesis,other newer applications include methylation status determination,expression profiling,copy number analysis in segmentally duplicated regions and transgene genotyping,and MLPA is combined with DNA chip to become a real high-throughput method. Here,the progress in MLPA technology and its applications are reviewed.
作者 胡晓 李汶 卢光琇
机构地区 中南大学生殖与干细胞工程研究所 中信湘雅生殖与遗传专科医院
出处 《现代生物医学进展》 CAS 2010年第2期362-365,294,共5页 Progress in Modern Biomedicine
关键词 MLPA CNV RT-MLPA MS-MLPA Array-MLPA MLPA CNV RT-MLPA MS-MLPA Array-MLPA
分类号 Q291 [生物学—细胞生物学] Q75 [生物学—分子生物学]
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参考文献32

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二级参考文献55

  • 1Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation- dependent probe amplification. Nucleic Acids Res, 2002, 30 : e57.
  • 2Kirehhof M, Bisgaard AM,Bryndorf T, et al .MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5. 8% of patients tll mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J IVied Genet, 2007,50 : 33 -42.
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现代生物医学进展
2010年 第2期

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