Distribution of dystrophin gene deletions in a Chinese population

J Int Med Res. 2016 Feb;44(1):99-108. doi: 10.1177/0300060515613223. Epub 2016 Jan 19.

Abstract

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.

Keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; accurate multiplex polymerase chain reaction; dystrophin gene; exon deletion.

MeSH terms

  • Adolescent
  • Asian Continental Ancestry Group / genetics*
  • Child
  • Child, Preschool
  • Dystrophin / genetics*
  • Exons / genetics
  • Gene Deletion*
  • Humans
  • Infant
  • Male
  • Muscular Dystrophy, Duchenne / genetics
  • Open Reading Frames / genetics
  • Sequence Deletion / genetics

Substances

  • Dystrophin