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Fig. 1 | BMC Genomics

Fig. 1

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. 1

Genetic analysis of the DMD gene in Pedigree 1. A and B show the family pedigree and DMD gene analysis results detected by MLPA, male members I1, III3, and III5 had hemizygous duplication variants of consecutive DMD exons 1–2 in Dp427m and exon 1 in Dp427c, and female members II2, II3, II4 and III8 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 location of the breakpoint and architectural features of the duplication variant. 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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