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Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset
| Content Provider | Scilit |
|---|---|
| Author | Sedghi, Maryam Nouri, Nayereh Salehi, Mansoor Hosseinzadeh, Majid Ghazavi, Mohammad Reza Behnam, Mahdieh Fazel-Najafabadi, Esmat |
| Copyright Year | 2014 |
| Abstract | The Duchenne muscular dystrophy (DMD) gene is located in the short arm of the X chromosome (Xp21). It spans 2.4 Mb of the human genomic DNA and is composed of 79 exons. Mutations in the Dystrophin gene result in DMD and Becker muscular dystrophy. In this study, the efficiency of multiplex ligation-dependent probe amplification (MLPA) over multiplex polymerase chain reaction (PCR) assays in an Iranian population was investigated. Multiplex PCR assays and MLPA analysis were carried out in 74 patients affected with DMD. Multiplex PCR detected deletions in 51% of the patients with DMD. MLPA analysis could determine all the deletions detected by the multiplex PCR. Additionally, MLPA was able to identify one more deletion and duplication in patients without detectable mutations by multiplex PCR. Moreover, MLPA precisely determined the exact size of the deletions. Although MLPA analysis is more sensitive for detection of deletions and duplications in the dystrophin gene, multiplex PCR might be used for the initial analysis of the boys affected with DMD in the Iranian population as it was able to detect 95% of the rearrangements in patients with DMD. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950794/pdf http://www.advbiores.net/article.asp?issn=2277-9175;year=2014;volume=3;issue=1;spage=72;epage=72;aulast=Nouri;type=2 |
| File Format | XHTML |
| ISSN | 22779175 |
| e-ISSN | 1947489X |
| DOI | 10.4103/2277-9175.125862 |
| Journal | Advanced Biomedical Research |
| Issue Number | 1 |
| Volume Number | 3 |
| Language | English |
| Publisher | Medknow |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Deletion Duchenne Muscular Dystrophy Duplication Multiplex Ligation-dependent Probe Amplification Multiplex Polymerase Chain Reaction Advanced Biomedical Research, Volume 3, Issue 1 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry, Genetics and Molecular Biology |
