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  • Title: [Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene].
    Author: Long F, Sun W, Ji X, Li XH, Liu XQ, Jiang WT, Tao J.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):699-704. PubMed ID: 22161109.
    Abstract:
    OBJECTIVE: To clarify advantages and disadvantages of using multiplex ligation-dependent probe amplification (MLPA) for detecting exonic deletions and duplications of the Dystrophin gene, and to explore the appropriate management for single-exon abnormality detected by MLPA. METHODS: MLPA were performed to detect exonic copy number changes in 70 Duchenne/Becker muscular dystrophy (DMD/BMD) patients diagnosed by clinical and histological findings. PCR, DNA sequencing and real-time PCR were applied to the samples in which MLPA indicated single-exon deletion or duplication. RESULTS: Of all 70 patients, MLPA detected exonic deletions in 42 (60%), including 12 with single-exon deletion and one with ambiguous single-exon deletion. Exon duplications were found in 7 patients (10%), among which two were single-exon duplication. 21 patients showed normal results (30%). For the 12 patients with single-exon deletion, MLPA results were confirmed by PCR in 11. In one patient, a deletion of two nucleotides (c.4470-4471delAA) was found by sequencing. A novel two-nucleotide deletion (c.4746-4747delCT) was identified in the patient with the ambiguous single-exon deletion. For the two patients showed single-exon duplication, MLPA results were confirmed by real-time PCR. CONCLUSION: MLPA should be the first choice in detecting Dystrophin gene exon deletions and duplications. Single-exon deletion/duplication resulted from MLPA should be further evaluated by other methods.
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