Comparison of multiplex ligation-dependent probe amplification (MLPA) analysis versus multiplex PCR assays in the detection of dystrophin gene

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 results in DMD and Beckers muscular dystrophy. In this study, the efficiency of MLPA over multiplex PCR assays in an Iranian population was investigated. Multiplex PCR assays and multiplex ligation-dependent probe amplification (MLPA) analysis were carried out in 65 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.