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Fig. 2 | BMC Genomics

Fig. 2

From: Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing

Fig. 2

Genetic analysis of the DMD gene in Pedigree 2. A and B show the family pedigree and DMD gene analysis results detected by MLPA, affected boy (II1) had a hemizygous duplication variant of exon 2 in the DMD gene, and his mother and sisiter were heterozygous. C shows a critical breakpoint from a screenshot of the integrative genomics viewer (IGV) based on LRS data analysis. D Schematic diagram shows the locations of breakpoints and architectural features of the duplication variants. E is the result of Sanger sequencing verification for the critical breakpoint. The red dashed line indicates the breakpoints and the red single arrow indicates the same critical breakpoint

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BMC Genomics

ISSN: 1471-2164

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