Figure 4. A newly occurred mtDNA variant (m.5800A>G) was observed in the matrilineal mitochondrial genome.

(A) The sequencing chromatograph of the mitochondrial genome of the matrilineal members. At nucleotide 5800, all members carried a guanine, while this residue was an adenine in the mitochondrial genome of the normal control. (B) The adenine-to-guanine variant occurred on the 5′ of the mitochondrial tRNA^cys anticodon. (C) PCR-RFLP showed that this variant was nearly homoplasmic at the 5800 site; samples were taken from the hair roots of the matrilineal members and from different tissues of the index case. NC: normal control B: Blood; H: hair root; Bu: buccal mucosa; U: urine.