Multiplex Ligation-dependent Probe Amplification (MLPA) for identification of mitochondrial DNA alterations in patients with mitochondrial disorders

Mitochondrial diseases are often associated with large scale deletions of the mitochondrial DNA (mtDNA). Furthermore a frequent point mutation A>G at position 3243 can be found. Deletions of the mtDNA are usually analyzed by Southern blotting or Long Range PCR. These techniques usually allow no mapping of the deletions. To detect the point mutation 3243 A>G a specific PCR is performed followed by restriction fragment length polymorphism analysis (RFLP). As a new molecular genetic method the multiplex ligation-dependent probe amplification (MLPA) was introduced from the company MRC Holland a few years ago. It is…