Key result
MLPA identifies mutations in an additional ~6% of DMD cases missed by multiplex PCR.
Why the study?
Does MLPA improve mutation analysis and carrier detection compared to multiplex PCR in patients with Duchenne muscular dystrophy?
Observational (n=227)
No
Does MLPA improve mutation analysis and carrier detection compared to multiplex PCR in patients with Duchenne muscular dystrophy?
MLPA provides additional diagnostic yield over multiplex PCR for detecting intragenic deletions and determining carrier status in Duchenne muscular dystrophy.
MLPA may enhance DMD mutation detection and carrier screening beyond multiplex PCR; leaves open routine adoption pending larger validation.
CONTEXT: 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.
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Phadke et al. (2012) conducted an observational in Duchenne muscular dystrophy (n=227). Multiplex Ligation-dependent Probe Amplification (MLPA) vs. Multiplex PCR was evaluated on Additional diagnostic yield of mutations in DMD/BMD cases. MLPA identified mutations in an additional 5.6% of DMD cases where multiplex PCR failed to detect intragenic deletions, and successfully determined carrier status in 8 of 10 female relatives.
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