Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene
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Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene
Military Medical ResearchIssue 6, Pages: 341-346(2007)
Affiliations:
1. Institute of Obstetrics and Gynecology.Third Affiliated Hospital Guangzhou Medical College
2. ,China
Author bio:
Funds:
DOI:
CLC:R746
Published:2007
Accepted:
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[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:
[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:
Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene
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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