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Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease
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1993 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 1, no 1, 88-95 p.Article in journal (Refereed) Published
Abstract [en]

Myoclonus epilepsy and ragged-red-fiber syndrome (MERRF) is caused by a point mutation at nucleotide 8344 in the tRNA(Lys) gene of mitochondrial DNA. We analyzed leukocyte DNA from nine members of a large MERRF family using a new technique, solid-phase minisequencing. Quantitative analysis of the tRNA(8344Lys) mutation showed that the mutated mtDNA comprised from 9 to 72% of the total mtDNA in the leukocytes of these individuals. The minisequencing method is a promising tool for the diagnosis of MERRF. In addition to the identification of the tRNA(8344Lys) mutation, the relative amount of mutated mtDNA can be simultaneously determined in the same assay from one blood sample.

Place, publisher, year, edition, pages
1993. Vol. 1, no 1, 88-95 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-169832PubMedID: 8069655OAI: oai:DiVA.org:uu-169832DiVA: diva2:507800
Available from: 2012-03-06 Created: 2012-03-06 Last updated: 2012-04-10Bibliographically approved

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Syvänen, Ann-Christine
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