The Many Faces of MLPA

作者: Thomas Ohnesorg , Erin Turbitt , Stefan J. White

DOI: 10.1007/978-1-60761-944-4_13

关键词:

摘要: Multiplex Ligation-dependent Probe Amplification (MLPA) is a PCR-based technique that was developed for identifying deletions and duplications in genomic DNA. The simplicity sensitivity of this approach has led to it being implemented many laboratories around the world. Since original publication, there have been several variants MLPA described, allowing quantitative analysis mRNA transcript levels, CpG methylation, complex regions, DNaseI hypersensitive sites. This chapter outlines basic protocol, describes different modifications applications published, discusses critical points during each steps.

参考文章(15)
Fanyi Zeng, Zhao-Rui Ren, Shang-Zhi Huang, Margot Kalf, Monique Mommersteeg, Maarten Smit, Stefan White, Chun-Lian Jin, Miao Xu, Da-Wen Zhou, Jing-Bin Yan, Mei-Jue Chen, Rinie van Beuningen, Shu-Zhen Huang, Johan den Dunnen, Yi-Tao Zeng, Ying Wu, Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients Human Mutation. ,vol. 29, pp. 190- 197 ,(2008) , 10.1002/HUMU.20613
Wouter N Leonhard, Jeroen H Roelfsema, Irma S Lantinga-van Leeuwen, Martijn H Breuning, Dorien JM Peters, Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice BMC Biotechnology. ,vol. 8, pp. 18- 18 ,(2008) , 10.1186/1472-6750-8-18
E. Aten, S.J. White, M.E. Kalf, R.H.A.M. Vossen, H.H. Thygesen, C.A. Ruivenkamp, M. Kriek, M.H.B. Breuning, J.T. den Dunnen, Methods to detect CNVs in the human genome. Cytogenetic and Genome Research. ,vol. 123, pp. 313- 321 ,(2008) , 10.1159/000184723
A.J. Notini, J.M. Craig, S.J. White, Copy number variation and mosaicism. Cytogenetic and Genome Research. ,vol. 123, pp. 270- 277 ,(2008) , 10.1159/000184717
S.J. White, L.E.L.M. Vissers, A. Geurts van Kessel, R.X. de Menezes, E. Kalay, A.E. Lehesjoki, P.C. Giordano, E. van de Vosse, M.H. Breuning, H.G. Brunner, J.T. den Dunnen, J.A. Veltman, Variation of CNV distribution in five different ethnic populations. Cytogenetic and Genome Research. ,vol. 118, pp. 19- 30 ,(2007) , 10.1159/000106437
Marco Groth, Karol Szafranski, Stefan Taudien, Klaus Huse, Oliver Mueller, Philip Rosenstiel, Anders O.H. Nygren, Stefan Schreiber, Gerd Birkenmeier, Matthias Platzer, High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes. Human Mutation. ,vol. 29, pp. 1247- 1254 ,(2008) , 10.1002/HUMU.20751
Tanja Lalic, Rolf H A M Vossen, Jordy Coffa, Jan P Schouten, Marija Guc-Scekic, Danijela Radivojevic, Marina Djurisic, Martÿn H Breuning, Stefan J White, Johan T den Dunnen, Deletion and duplication screening in the DMD gene using MLPA European Journal of Human Genetics. ,vol. 13, pp. 1231- 1234 ,(2005) , 10.1038/SJ.EJHG.5201465
Anders OH Nygren, Najim Ameziane, Helena MB Duarte, Raymon NCP Vijzelaar, Quinten Waisfisz, Corine J Hess, Jan P Schouten, Abdellatif Errami, Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Research. ,vol. 33, pp. 128- 128 ,(2005) , 10.1093/NAR/GNI127
Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Bert Bakker, Martijn H. Breuning, Johan T. den Dunnen, Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Human Mutation. ,vol. 24, pp. 86- 92 ,(2004) , 10.1002/HUMU.20054
Jan P Schouten, Cathal J McElgunn, Raymond Waaijer, Danny Zwijnenburg, Filip Diepvens, Gerard Pals, Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic Acids Research. ,vol. 30, ,(2002) , 10.1093/NAR/GNF056