Figure 4 | Genetics in Medicine

Figure 4

From: Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Figure 4

Low-level heteroplasmy detected by massively parallel sequencing (MPS) method in pedigree studies. MPS method was used to quantify the levels of heteroplasmy for the mutations among different families: (a) family 1, m.3243A→G; (b) family 2, m.5001dupA; (c) family 3, m.4296G→A; (d) family 4, m.7222A→G. Additional results of allele refractory mutation system–based quantitative PCR are shown in (b) following the star sign inside parentheses.

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