Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations

Figures

• 

  Fig. 1. Chart of library quality control by Agilent 2100. LM, lower marker; UM, upper marker. Quality control of the library of the DMD-SMA probe set by Agilent 2100 showed that the main peak was located near 228 bp

• 

  Fig. 2. A case with a hemizygous deletion of DMD exons 30–44. A The first graph shows the copy number of the DMD gene, including 80 pairs of probes on all 79 exons, arranged by exon number. The second graph shows probes on the SMN gene, including eight pairs of probes in eight exons and four pairs of probes in exon 7 and exon 8 that distinguish SMN1 from SMN2. The third graph includes six pairs of probes distributed on the X and Y chromosomes for sex determination and 10 pairs of probes distributed on autosomes as internal references. The fourth graph is a thumbnail, comparing copy numbers of the DMD/SMA gene, internal references, etc., according to the unified criteria. B The results of the MLPA assay. Sites are arranged according to the length of the designed probes. The sequence order was provided by the documentation from MRC Holland (https://www.mrcholland.com/products).

• 

  Fig. 3. A, B A case with a threefold (3×) duplication of DMD exons 3–7. Notes please refer to Figure 2

• 

  Fig. 4. A, B A case of homozygous deletion of SMN1. Notes please refer to Figure 2

• 

  Fig. 5. A, B A case of heterozygous deletion of SMN1. Notes please refer to Figure 2