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. Author manuscript; available in PMC: 2019 May 1.
Published in final edited form as: Mol Genet Metab. 2018 Mar 27;124(1):71–81. doi: 10.1016/j.ymgme.2018.03.011

Fig. 2.

Fig. 2

Detection of the m.8993T > G variant by LR-PCR-based next generation sequencing in fibroblasts of the proband and his mother. (A) Gel electrophoresis of the LR-PCR products from the proband and his mother. The size of the amplicon product is 16.6 kb. (B) The piled-up LR-PCR/massively parallel sequencing (MPS) result of the proband reveals that there are 83% T > G at the m.8993 position. (C) The piled-up LR-PCR/massively parallel sequencing (MPS) result of the proband’s mother indicates that all nucleotides at the m.8993 position are T’s. (D) Pedigree tree with the proband identified by an arrow. Percentages indicate the proportion of m.8993T > G variant in blood (B) and fibroblasts (F) of the proband and his mother.