Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene

李少英; 孙筱放; 黎青; 张慧敏; 蒋永华

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Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene

Updated：2026-03-12

- Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene
- Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene
- 解放军医学杂志（英文版） 2007年第6期页码：341-346
- Affiliations：
  
  1. Institute of Obstetrics and Gynecology.Third Affiliated Hospital Guangzhou Medical College
  2. ,China
- Author bio：
- Funds：
- DOI：
  中图分类号： R746
- 纸质出版：2007
- Accepted：
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Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene[J]. 解放军医学杂志（英文版）, 2007,(6):341-346.

[1]李少英,孙筱放,黎青,张慧敏,蒋永华.Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene[J].Journal of Medical Colleges of PLA,2007(06):341-346.
Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene[J]. 解放军医学杂志（英文版）, 2007,(6):341-346. DOI：

[1]李少英,孙筱放,黎青,张慧敏,蒋永华.Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene[J].Journal of Medical Colleges of PLA,2007(06):341-346. DOI：

摘要

Abstract

<正>Objective:Duchenne muscular dystrophy（DMI）) and Becker muscular dystrophy（BMD） are X-linked disorders caused by mutations in the dystrophin gene.The majority of recognized mutations are copy number changes of individual exons.The objective of the present study was to assess the multiplex [igation dependent probe amplification（MLPA） effects of detection of gent mutations.Methods:Samples of 2o control males and 80 males and their mothers referred to our diagnostic facility on the clinical suspi- cion of DMD or BMD were tested by MI

PA and multiplex PCR.Results:The mean DQs for all peak of 20 control male samples was I

02 （range from 0.83to 1.21） by MLPA.Deletions or duplications wereiden tified in 6 out of 31 families that had been previously tested as negative by multiplex PCR.One case of complex rearrangement involving a duplication of two regions:dupEX3-9 and dupEX 17-41 were found by MLPA.Conclusions:MLPA is a highly sensitive method and rapid alternative to multiplex PCR for detec tion of DMD and BMI).

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