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Background: Large-scale mitochondrial DNA (mtDNA)-deletions are associated w ith clinical conditions such as Kearns-Sayre syndrome and chronic progressive e xternal ophthalmoplegia in adults and Pearson syndrome in children.Reported case series have suggested that deletions are not uncommon in the population, but th eir prevalence has not been documented. Methods: The authors ascertained patient s with clinical features associated with mtDNA deletions in a defined adult popu lation in northern Finland. Buccal epithelial samples were requested from each p atient fulfilling the selection criteria,and full-length mtDNA was amplified us ing the long PCR method. Deletion breakpoints were identified using sequencing.P atients with deletions were examined clinically. Results:The authors identified four patients with single large-scale mtDNA deletions. The prevalence of deleti ons was calculated to be 1.6/100,000 in the adult population in the province of Northern Ostrobothnia (0.0 to 3.2; 95%CI). Analysis of incident cases from a neighbori ng province revealed two patients with deletions and yielded a similar populatio n frequency. Conclusions:The frequency of large-scale mitochondrial DNA deletio ns is similar among populations, suggesting that there is a constant rate of new deletions.
Background: Large-scale mitochondrial DNA (mtDNA) -deletions are associated w ith clinical conditions such as Kearns-Sayre syndrome and chronic progressive e xternal ophthalmoplegia in adults and Pearson syndrome in children. Reported series series have suggested that deletions are not uncommon in the population, but th eir prevalence has not been documented. Methods: The authors ascertained patient s with clinical features associated with mDNA deletions in a defined adult popu lation in northern Finland. Buccal epithelial samples were requested from each p atient fulfilling the selection criteria, and Full-length mtDNA was amplified us ing the long PCR method. Deletion breakpoints were identified using sequencing. P atients with deletions were examined clinically. Results: The authors identified four patients with single large-scale mtDNA deletions. The prevalence of deleti ons was calculated to be 1.6 / 100,000 in the adult population in the province of Northern Ostrobothnia (0.0 to 3.2; 95% CI). Analysis of incident cases from a neighbori ng province revealed two patients with deletions and yielded a similar populatio n frequency. Conclusions: The frequency of large-scale mitochondrial DNA deletio ns are similar among populations, suggesting that there is a constant rate of new deletions.