| Objective: In recent years, mtDNA with large deletions are found in the skeletal muscle and other tissues of certain patients with mitochondrial respiratory chain deficiencies, particularly in those with the CPEO (chronic progressive external ophthalmoplegia) phenotype. Many study reveal that the deletion of mtDNA is an important cause of this disease. The purpose of this research is to study the mitochondrial deletion DNA of skeletal muscle from 11 patients with chronic progressive external ophthalmoplegia and kearns-sayre syndrome.Methods: 1μg samples of DNA extracted from skeletal muscles of 11 patients with chronic progressive external ophthalmoplegia and kearns-sayre syndrome were digested with the restriction endonuclease Pvu II (cleavage site at nucleotide 2654 ) at 37 ℃ for an hour with 2-3 units of enzyme in a final volume of 20 μ 1 as recommended by the enzyme suppliers. DNA fragments, which were linearized by the endonuclease, were separated by... |
