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多重连接依赖性探针扩增技术及其在临床中的应用 被引量:1

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摘要 正多重连接依赖性探针扩增(Multiplex Ligation-dependent Probe Amplification,MLPA)技术是一种高效、特异、快速、简便,针对待检核苷酸序列进行定性和相对定量分析的技术。
出处 《妇产与遗传(电子版)》 2012年第1期52-55,共4页 Obstetrics-Gynecology and Genetics (Electronic Edition)
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参考文献22

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二级参考文献99

  • 1钱卫平,谭玉梅,宋丹,谭跃球,卢光琇.1780例自然流产患者的细胞遗传学分析[J].中南大学学报(医学版),2005,30(3):258-260. 被引量:16
  • 2Schouten 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.
  • 3Kirehhof 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.
  • 4Slater H, Bruno D, Ren H, et al. Improved testing for CMTIA and HNPP using multiplex ligation dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphaseFISH method. Hum Mutat,2004,24 :164-171.
  • 5Martinez-Glez V, Lorda Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated th subtelomeric 6p deletion. Eur J Med Genet ,2007,5 : 120-127.
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  • 10Henken FE, Wilting SM, Overmeer RM, et al. Sequential gene promoter methylation during HPV-induced cervical carcinogenesis. Br J Cancer, 2007, 97: 1457-1464.

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