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

Distribution of dystrophin gene deletions in a Chinese population.

Author information

1
Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China.
2
Department of Neurology, The Affiliated Children's Hospital, Capital Institute of Paediatrics, Beijing, China.
3
Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China cipbiolab@163.com.

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

PMID:
26786758
PMCID:
PMC5536562
DOI:
10.1177/0300060515613223
[Indexed for MEDLINE]
Free PMC Article

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