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

Authors
Nayereh Nouri 1
Esmat Fazel-Najafabadi 2
Mansoor Salehi 3
Majid Hosseinzadeh 2
Mahdieh Behnam 2
Mohammad Reza Ghazavi 4
Maryam Sedghi 1
1 Medical Genetics Laboratory, Alzahra University Hospital; Pediatric Inherited Disease Research Center; Pediatric Neurology, Pediatric Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
2 Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
3 Medical Genetics Laboratory, Alzahra University Hospital; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran
4 Pediatric Neurology, Pediatric Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
Abstract
Background: 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.
Materials and Methods: Multiplex PCR assays and MLPA analysis were carried out in 74 patients affected with DMD.
Results: 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.
Conclusion: 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.

Keywords

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Advanced Biomedical Research
Volume 2014, January
January 2014
Pages 1-4