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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。
作者 熊丽 刘思平 宋兰林
机构地区 南方医科大学南方医院妇产科产前诊断与遗传病诊断技术中心
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)
关键词 靶序列 探针杂交 染色体异常 甲基化 可检测 技术 点突变 探针设计 非整倍体 核型分析
分类号 R440 [医药卫生—诊断学]
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参考文献22

  • 1Schouten JP,McElgunn CJ,WaaOer R. Relative quantification of 40 nucleic acid sequences by multiplex ligation dependent probe amplification[J].Nucleic Acids Research,2002,(12):e57.
  • 2熊丽,刘洁,邓康,刘思平,贾蓓,吴瑞枫,钟梅,曾嵘.早期自然流产绒毛细胞培养及染色体核型分析110例[J].南方医科大学学报,2009,29(1):64-67. 被引量：62
  • 3Bettio D,Venci A,Levi Setti PE. Chromosomal Abnormalities in Miscarriages after Different Assisted Reproduction Procedures[J].Placenta,2008.126-128.
  • 4Kim JW,Lee WS,Yoon TK. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment[J].Bmc Medical Genetics,2010,(11):153.
  • 5D6ria S,Carvalho F,Ramalho C. An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths[J].European Journal of Obstetrics & Gynecology and Reproductive Biology,2009,(02):144-150.
  • 6Boormans EM,BirnieE,Wildschut HI. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis:the M.A.K.E.study[J].BMC Pregnancy and Childbirth,2008,(08):1-15.
  • 7Gerdes T,Kirchhoff M,Lind AM. Multiplex ligation -dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneu-ploidy of chromosomes 13,18,21,X,and Y[J].Prenat Di-agn,2008,(12):1119-1125.
  • 8Van Opstal D,Boter M,de Jong D. Rapid aneu-ploidy detection with multiplex ligation-dependent probe amplification,a prospective study of 4000 amniotic fluid samples[J].European Journal of Human Genetics,2009,(01):112-121.doi:10.1038/ejhg.2008.161.
  • 9Kooper AJ,Faas BH,Kater-Baats E. Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells[J].Prenatal Diagnosis,2008,(11):1004-1010.doi:10.1002/pd.2111.
  • 10Shao L,Shaw CA,Lu XY. Identification of chromosome abnormalities in subtelomeric regions by microar-ray analysis:a study of 5,380 cases[J].American Journal of Medical Genetics,2008,(17):2242-2251.

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.
  • 6Sivertsen A, Lie RT, Wilcox AJ, et al. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a populationbased sample of infants with cleft palate. Am J Med Genet A,2007,143 : 129- 134.
  • 7Eldering E,Spek CA, Aherson HL, et al. Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signaling pathways. Nucleic Acids Res, 2003,31 : e153.
  • 8Spek CA, Verhon A, Aherson H,et al. Treatment with an anti- CD14 monoclonal antibody delays and inhibits lipopolysaccharide- induced gene expression in humans in vivo. J Clin Immunol, 2003, 23 : 132-140.
  • 9Nygren AO, Ameziane N, Duarte HM, et al. Methylation-specific MLPA (MS-MLPA) = simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res,2005,33 : e128.
  • 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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妇产与遗传（电子版）
2012年 第1期

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