Abstract
This chapter intends to provide the different DNA and protein methods for analysis of the repeat in the FMR1 gene, both in humans and in mouse models. The methods to determine the CGG repeat size include Southern blot analysis, polymerase chain reaction (PCR), and methylation status analysis, including bisulfite treatment. The methods to determine expression include analysis of RNA levels and protein levels.
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References
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Acknowledgments
The authors like to thank Wout Deelen for providing information about the nonradioactive Southern blot method, in particular primer information, Leontine van Unen for development of ÂQ-MS-PCR technique, and Marianne Hoogeveen for the help with the PCR methodology. Updates on methodologies will be published by Rob Willemsen on the Web site http://www.erasmusmc.nl/47421/51019/2004677/2004971/2020792/protocols.
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Hukema, R.K., Oostra, B.A. (2013). The CGG Repeat and the FMR1 Gene. In: Kohwi, Y., McMurray, C. (eds) Trinucleotide Repeat Protocols. Methods in Molecular Biology, vol 1010. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-411-1_11
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DOI: https://doi.org/10.1007/978-1-62703-411-1_11
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Publisher Name: Humana Press, Totowa, NJ
Print ISBN: 978-1-62703-410-4
Online ISBN: 978-1-62703-411-1
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