Figure 2

Analyses of the mtDNA of the patient.
(A) The mtDNAs from the patient and control cells were investigated by PCR using two primers from positions 109 to 16364 (16255bp, fragment 1), and 9340 to 8964 (16250bp, fragment 2), as depicted on the left, and agarose gel analysis of the amplified DNA fragments (right), which revealed the absence of deletion in the mtDNA of the patient. (B) Relative mtDNA copy number in the patient and control as measured by real-time quantitative PCR. (C) Partial mtDNA sequence chromatogram showing the presence at position 8969 in the patient of both the wild type (Guanine (G), in black) and mutant (Adenine (A), in green) nucleotides. (D) Percentages of the G8969>A mutation in the blood and urine sediments of the patient’s mother, and in urine sediments, blood and kidney of the patient, as determined by pyrosequencing.