Transcription of the dystrophin gene in human muscle and non-muscle tissues

The gene that is defective in patients with Duchenne and Becker muscular dystrophy consists of about 60 short exons scattered along a gigantic DNA region that spans some 2 megabase pairs1,2. The encoded protein, dystrophin, was recently characterized as a component of muscle intracellular membranes of low abundance3,4. The dystrophin messenger RNA is difficult to study in both normal and pathological tissue specimens because it is large (14 kilobases) and scarce (0.01–0.001% of total muscle mRNA)2. We report here that efficient in vitro co-amplifications of the mRNAs of the dystrophin gene and of a reporter gene, aldolase A, by the poly-merase chain reaction procedure5 enables us to obtain a quantitative estimate of the dystrophin gene transcript. A processed, transcribed segment was thus detected in 13 different human tissues. It ranged from 0.02–0.12% of total mRNA in skeletal muscle to 25,000 times less in lymphoblastoid cells.

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