Fig. 3 | Genetics in Medicine

Fig. 3

From: Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy

Fig. 3

Variant mDHPLC peak profile and two underlying sequence changes in the NADH dehydrogenase subunit 5 gene. a, Left: the expected peak profile of mitochondrial fragment 17 (nucleotides 13172–14610), which is digested by the Alu I and Dde I restriction enzymes before mDHPLC. Right: aberrant chromatogram of Patient 8, because of a mutation-induced change in the restriction pattern. b, Sequence analysis of fragment 17 in Patient 8 demonstrated two homoplasmic sequence changes. The 13708G>A mutation (left) has been reported in LHON syndrome. Variant peaks are indicated by arrows. RFLP, restriction fragment length polymorphism.

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