RP-PCR for detecting GGC repeats at NOTCH2NLC (linked to NIID)8 (link), TTTCA repeats at SAMD12 (linked to benign adult familial myoclonic epilepsy)10 (link),45 (link), AAGGG repeats at RFC154 (link), and TGGAA repeats at BEAN1 (linked to SCA31)55 (link) were performed as described8 (link),10 (link),45 (link),54 (link),55 (link). RP-PCR for detecting GGCCTG repeats at NOP56 (linked to SCA36)56 (link) was performed elsewhere. Primer sequences and PCR conditions are shown in Supplementary Table 6. RP-PCR products were resolved and visualized using an Applied Biosystems 3500xL Genetic Analyzer (Thermo Fischer Scientific) and analyzed using GeneMapper software (Thermo Fischer Scientific).
Miyatake S., Koshimizu E., Fujita A., Doi H., Okubo M., Wada T., Hamanaka K., Ueda N., Kishida H., Minase G., Matsuno A., Kodaira M., Ogata K., Kato R., Sugiyama A., Sasaki A., Miyama T., Satoh M., Uchiyama Y., Tsuchida N., Hamanoue H., Misawa K., Hayasaka K., Sekijima Y., Adachi H., Yoshida K., Tanaka F., Mizuguchi T, & Matsumoto N. (2022). Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing. NPJ Genomic Medicine, 7, 62.
Adult Biosystems Myoclonic epilepsy Niid Primer Sca31
Corresponding Organization : Yokohama City University
Other organizations :
Yokohama City University Medical Center, Asahikawa Medical University, Shinshu University, National Hospital Organization, Chiba University, Yamagata University, Yokohama City University Hospital, RIKEN Center for Advanced Intelligence Project, University of Occupational and Environmental Health Japan
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