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Distribution of dystrophin gene deletions in a Chinese population.

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.

SUBMITTER: Li Y

PROVIDER: S-EPMC5536562 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Publications

Distribution of dystrophin gene deletions in a Chinese population.

Li Yuanyuan Y Liu Zhuo Z OuYang Shengrong S Zhu Yanli Y Wang Liwen L Wu Jianxin J

The Journal of international medical research 20160119 1

<h4>Objective</h4>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).<h4>Methods</h4>Patients with DMD/BMD were recruited. Deletions in 19 exons of the dystrophin gene were evaluated using accurate multiplex polymerase chain reaction (PCR).<h4>Result</h4>Multiplex PCR identified deletions in 238/401 (59.4%) patients with DMD/BMD. Of these, 196 (82.4 ...[more]

PMID: 26786758

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