Analysis of CTG Repeats Using DM1 Model Mice

This chapter describes how transgenic mice can be made with human genomic DNA fragments cloned from DM1 patients’ DNA and how the CTG repeat instability is assessed over generations and in different tissues. Construction of cosmid libraries is fully reported from the extraction of high-molecular-weight DNA from patients’ lymphoid cell lines, to the screening and mapping of the positive clones. After establishment of transgenic lines, we explained the methods used to analyze (a) the CTG repeats that are inherited from the transgenic parents, with regard to age, sex, and parental CTG repeat sizes, and (b) the CTG repeat-length variations that can be observed in somatic tissues and in sperm.