The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation

• Published in: Journal of medical genetics Vol. 39; no. 3; pp. 204 - 205
• Main Authors: Gray, R G F, Davies, P A, Marshall, A, Heath, S K
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.03.2002; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: 8994 polymorphism; Ataxia - complications; Ataxia - genetics; Biological and medical sciences; DNA Mutational Analysis; DNA, Mitochondrial - genetics; Enzymes; Gene Frequency - genetics; General aspects. Genetic counseling; Genes; Genomes; Humans; Letter to JMG; Medical genetics; Medical sciences; Mitochondrial DNA; mtDNA; Mutation; Mutation - genetics; NARP; Nervous System Diseases - complications; Nervous System Diseases - genetics; Polymorphism, Genetic - genetics; Retinitis Pigmentosa - complications; Retinitis Pigmentosa - genetics; Human; Nervous system diseases; Retinopathy; Retinitis pigmentosa; Exploration; Mitochondrial DNA; Neuropathy; Differential diagnostic; Cerebral disorder; Genetic disease; Polymerase chain reaction; Eye disease; Gene frequency; Gene; Central nervous system disease; Ataxia; Diagnosis; Mutation; Technique; Molecular biology; Complex syndrome; Neurological disorder; Polymorphism
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.39.3.204

Under the gel electrophoresis conditions used (2% agarose with ethidium bromide staining), the 190 bp and 187 bp fragments run as a single band and the 31 bp fragment is usually not visible as it runs off the gel. [...]in the presence of the 8994 polymorphism two fragments are seen, while in its absence three fragments are detected. [...]the probability of a false negative diagnosis if a test for the 8994 polymorphism was not performed is 0.0013%.