Abstract
Promoter-specific transcripts of the dystrophin gene in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid cells were analysed using reverse transcription-nested polymerase chain reaction. Two DNA fragments, corresponding to the alternative first exons transcribed from either brain- or muscle-type promoters, were both amplified from cDNA prepared from normal lymphocytes and lymphoblastoid cells. The nucleotide sequences of the amplified products were 100% homologous to the 5′ termini of the cDNA of brain-and muscle-type dystrophins, respectively. Neither fragment was amplified from the lymphoblastoid cells of a patient with Duchenne muscular dystrophy, who has a partial deletion involving the brain- and muscle-type promoters in the dystrophin gene. These findings showed that the brain-type as well as the muscle-type promoter of the dystrophin gene was active in lymphocytes and lymphoblastoid cells.
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Nishio, H., Matsuo, M., Kitoh, Y. et al. Brain- and muscle-type promoters of the dystrophin gene are selected in peripheral lymphocytes and Epstein Barr virus-transformed lymphoplastoid cells. J Neurol 241, 81–86 (1993). https://doi.org/10.1007/BF00869768
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DOI: https://doi.org/10.1007/BF00869768