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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Distribution of dystrophin gene deletions in a Chinese population
Yuanyuan Li1, Zhuo Liu1, Shengrong OuYang1
1Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China.
Objective:
To describe the deletion patterns and distribution characteristics of the dystrophin gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).
Methods:
Patients with DMD/BMD were recruited. Deletions in 19 exons of the dystrophin gene were evaluated using accurate multiplex polymerase chain reaction (PCR).
Result:
Multiplex PCR identified deletions in 238/401 (59.4%) patients with DMD/BMD. Of these, 196 (82.4%) were in the distal hotspot, 32 (13.4%) were in the proximal hotspot, five (2.1%) were in both regions and five (2.1%) were in neither hotspot. Deletions were classified into 54 patterns. Exon 49 was the most frequently deleted. The reading frame rule was upheld for 91.9% of cases.
Conclusion:
Accurate multiplex PCR for 19 exons is an effective diagnostic tool.
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