Diagnosis of quantitative mitochondrial DNA defects by rapidly prepared whole mitochondrial DNA probe

Analysis of disease-causing mutations in mitochondri genome requires rapid and reliable genetic approaches. However, the preparation of mitochondrial DNA (mtDNA) probe used for the determination of quantitative and qualitativ e mtDNA defects is time-consuming, cumbersome, and requires complicated ins trumentation. To overcome the difficulties encountered during isolation and purification of mtDNA, the authors developed an alternative method based o n polymerase chain reaction (PCR) amplification of whole mtDNA genome. In t his study, they show that PCR-amplified and fluorescein-labeled mtDNA probe makes it possible, through Southern blot analysis, to identify quantitativ e defect of mtDNA. The results indicate that mtDNA probe can be prepared ra pidly by PCR amplification and used to determine the level of mtDNA in the patients with mitochondrial diseases.