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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doi.org/10.1007/978-1-62703-411-1-11, hdl.handle.net/1765/59437
Department of Clinical Genetics

Hukema, R., & Oostra, B. (2013). The CGG repeat and the FMR1 gene. doi:10.1007/978-1-62703-411-1-11