Surveyor Nuclease Detection of Mutations and Polymorphisms of mtDNA in Children
✍ Scribed by Jacek Pilch; Marek Asman; Ewa Jamroz; Maciej Kajor; Elżbieta Kotrys-Puchalska; Małgorzata Goss; Maria Krzak; Joanna Witecka; Jan Gmiński; Aleksander L. Sieroń
- Book ID
- 116825796
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 92 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0887-8994
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Molecular analysis of mitochondrial DNA (mtDNA) is a critical step in diagnosis and genetic counseling of respiratory chain defects. No fast method is currently available for the identification of unknown mtDNA point mutations. We have developed a new strategy based on complete mtDNA PCR amplificati
## Communicated by Garry R. Cutting Mitochondrial DNA (mtDNA) mutations are an important cause of human disease. Most mtDNA mutations are found in heteroplasmy, in which the proportion of mutant vs. wild-type species is believed to explain some of the observed high phenotypic heterogeneity. Howeve