DMD Gene Deletion and Duplication in Chinese Patients
Author Information
Author(s): Wang Xiaozhu, Wang Zheng, Yan Ming, Huang Shangzhi, Chen Tian-Jian, Zhong Nanbert
Primary Institution: Peking University Center of Medical Genetics, Peking University, Beijing, China
Hypothesis
The frequency of deletion and duplication in DMD gene among northern Chinese patients is similar to that in global populations.
Conclusion
The frequency of deletion and duplication in northern China is similar to global ethnic populations.
Supporting Evidence
- 73% of subjects had a deletion or duplication.
- Exons 51–52 were the most commonly deleted fragments.
- 90% of cases carried small deletions involving 10 exons or less.
Takeaway
This study looked at patients with a muscle disease called DMD and found that many had missing or extra pieces of a gene, just like people from other parts of the world.
Methodology
Multiplex ligation-dependent probe amplification (MLPA) was used to analyze the genetic samples.
Limitations
Clinical information was incomplete, preventing analysis on genotype-phenotype correlation.
Participant Demographics
160 affected male probands and 19 females with affected sons.
Digital Object Identifier (DOI)
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