PMC:2495064 / 4117-4807 JSONTXT

{"project":"2_test","denotations":[{"id":"18674747-9610806-2049167","span":{"begin":309,"end":311},"obj":"9610806"},{"id":"18674747-14698416-2049168","span":{"begin":688,"end":690},"obj":"14698416"}],"text":"We measured the frequency of the ten pathogenic mtDNA mutations often found in patients with mitochondrial disease (m.1555A→G, m.3243A→G, m.3460G→A, m.7445A→G, m.8344A→G, m.8993T→G, m.11778G→A, m.13513G→A, m.14459G→A, m.14484T→C) in ∼3000 sequential umbilical-cord-blood samples from north Cumbria in England.12 Consent for inclusion into the study exceeded 80%. Ethical approval to investigate mtDNA mutations within this cohort was granted by the West Cumbria Local Research Ethics Committee (Project 381). Previous epidemiological and nuclear genetic studies established that this cohort is a random sample of the population with numerous nuclear alleles in Hardy-Weinberg equilibrium.13"}