Identification and Monitoring of Nucleotide Repeat Expansions Using Southern Blotting in Models of Motor Neuron Disease and Frontotemporal Dementia.

Repeat expansion diseases, including fragile X syndrome, Huntington's disease, and -related motor neuron disease and frontotemporal dementia, are a group of disorders associated with polymorphic expansions of tandem repeat nucleotide sequences. These expansions are highly repetitive and often hundreds to thousands of repeats in length, making accurate identification and determination of repeat length via PCR or sequencing challenging. Here we describe a protocol for monitoring repeat length in models carrying 1,000 repeat -related dipeptide repeat transgenes using Southern blotting. This protocol has been used regularly to check the length of these lines for over 100 generations with robust and repeatable results and can be implemented for monitoring any repeat expansion in .