Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.

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dc.contributor.authorVerma, Prashant K
dc.contributor.authorDalal, Ashwin
dc.contributor.authorMittal, Balraj
dc.contributor.authorPhadke, Shubha R
dc.date.accessioned2012-07-12T04:59:22Z
dc.date.available2012-07-12T04:59:22Z
dc.date.issued2012-01
dc.description.abstractCONTEXT: Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders. AIM: To study the utility of MLPA in diagnosis and carrier detection for DMD. MATERIALS AND METHODS: Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared. RESULTS AND CONCLUSIONS: We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.en_US
dc.identifier.citationVerma Prashant K, Dalal Ashwin, Mittal Balraj, Phadke Shubha R. Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy. Indian Journal of Human Genetics. 2012 Jan; 18(1): 91-94.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/139450
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385188/en_US
dc.subjectDystrophinen_US
dc.subjectDuchenne and Becker muscular dystrophiesen_US
dc.subjectmultiplex ligation-dependent probe amplificationen_US
dc.subjectcarrier detectionen_US
dc.subject.meshDystrophin
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMembrane Proteins --analysis
dc.subject.meshMultiplex Polymerase Chain Reaction --methods
dc.subject.meshMuscular Dystrophy, Duchenne --genetics
dc.subject.meshPolymerase Chain Reaction --methods
dc.titleUtility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.en_US
dc.typeArticleen_US
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