Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA
โ Scribed by Anu Suomalainen; Emma Ciafaloni; Yasutoshi Koga; Leena Peltonen; Salvatore DiMauro; Eric A. Schon
- Book ID
- 118931420
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 581 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0022-510X
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Objectives: Mitochondrial cytopathies such as Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MEt.AS), and myoclonus epilepsy with red ragged fibers (MERRF) are associated with distinct mtDNA point mutations (for review see 1
A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP
## Summary Singleโstranded conformation polymorphism (SSCP) analysis was used to examine the mutations of the chloroplast 16S rRNA locus of streptomycinโresistant mutants in __Nicotiana plumbaginifolia.__ DNA fragments of 121, 517, 968 and 1578 bp, each possessing a known point mutation, were gener