Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)

• Published in: Clinical biochemistry Vol. 39; no. 4; pp. 367 - 372
• Main Authors: Lai, Kent K.S., Lo, Ivan F.M., Tong, Tony M.F., Cheng, Lydia Y.L., Lam, Stephen T.S.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2006
• Subjects: Deletion; DMD; Duplication; Dystrophin - genetics; Exons; Female; Gene Amplification; Gene Deletion; Gene Duplication; Humans; Male; MLPA; Polymerase Chain Reaction - methods; Deletion; DMD; MLPA; Duplication
• ISSN: 0009-9120; 1873-2933
• DOI: 10.1016/j.clinbiochem.2005.11.019

To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers. MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR. In addition, the extent of the deletions and duplications could be more accurately defined which in turn facilitated a genotype–phenotype correlation. MLPA is superior to multiplex PCR. It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers.