Figure 2.

PCR analysis of ΔmtDNA⁴⁹⁷⁷ in autopsied tissues from AD4 and their cybrid clones. (A) Amplification of ΔmtDNA⁴⁹⁷⁷. (B) Amplification of wild-type mtDNA. PCR analysis was carried out with total DNA prepared from ρ⁰ HeLa cells as a negative control (ρ⁰) and ΔmtDNA⁴⁹⁷⁷ prepared from a patient with Kearns–Sayre syndrome (provided by Y.-i. Goto and I. Nonaka, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan) as a positive control (PC). SN, substantia nigra; GP, globus pallidus; B, blood; CyAD4-SN, a cybrid clone with mtDNA from the substantia nigra; CyAD4-GP1 and CyAD4-GP2, cybrid clones with mtDNA from the globus pallidus; CyAD4-B1 and CyAD4-B2, cybrid clones with mtDNA from platelets of AD4. Arrowheads indicate a fragment of 392 bp amplified from ΔmtDNA⁴⁹⁷⁷ (A) and a fragment of 399 bp amplified from wild-type mtDNA (B).