The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
- St. Thomas`s Hospitals, London (United Kingdom)
The protein truncation test (PTT) is a mutation-detection method that monitors the integrity of the open reading frame (ORF). More than 60% of cases of Duchenne muscular dystrophy (DMD) result from gross frameshifting deletions in the dystrophin gene that are detectable by multiplex PCR system. It has become apparent that virtually all of the remaining DMD mutations also disrupt the translational reading frame, making the PTT a logical next step toward a comprehensive strategy for the identification of all DMD mutations. We report here a pilot study involving 22 patients and describe the mutations characterized. These constitute 12 point mutations or small insertions/deletions and 4 gross rearrangements. We also have a remaining five patients in whom there does not appear to be mutation in the ORF. We believe that reverse-transcription-PCR/PTT is an efficient method by which to screen for small mutations in DMD patients with no deletion. 29 refs., 2 figs., 3 tabs.
- OSTI ID:
- 105238
- Journal Information:
- American Journal of Human Genetics, Vol. 57, Issue 2; Other Information: PBD: Aug 1995
- Country of Publication:
- United States
- Language:
- English
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