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Original Article

PCR in the Analysis of Mutations in Mitochondrial DNA

Pages 201-205 | Published online: 08 Jul 2009

References

  • Wallace D C., Singh G, Lott M, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427–30
  • Holt I J., Harding A E., Morgan-Hughes J A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717–9
  • Mullis K B., Faloona F A. Specific synthesis of DNA in vitro via a polymerase catalyzed chain reaction. Methods Enzymol 1987; 155: 335–50
  • Anderson S, Bankier A T., Barrell B G., et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457–65
  • Moraes C T., DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293–9
  • Zeviani M, Moraes C T., DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38: 1339–46
  • Lestienne P, Ponsot G. Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1988; i: 885
  • Rötig A, Colonna M, Blanche S, et al. Deletion of blood mitochondrial DNA in pancytopenia. Lancet 1988; ii: 567–8
  • Rötig A, Colonna M, Bonnefont J P., et al. Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601–8
  • Majander A, Suomalainen A, Vettenranta K, et al. Congenital hypoplastic anemia, diabetes and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res 1991; 30: 327–30
  • Ozawa T, Yoneda M, Tanaka M, et al. Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. Biochem Biophys Res Commun 1988; 154: 1240–7
  • Poulton J, Deadman M E., Ramacharan S, Gardiner R M. Germ-line deletions of mtDNA in mitochondrial myopathy. Am J Hum Genet 1991; 48: 649–53
  • Southern E M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98: 503–15
  • Johns D R., Hurko O. Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNA. Genomics 1989; 5: 623–8
  • Shoffner J M., Lott M T., Lezza A M., Seibel P, Bellinger S W., Wallace D C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 1990; 61: 931–7
  • Goto Y I., Nonaka I, Horai S. A mutation in the tRNALau(UUR) gene associated with MELAS subgroup of mitochondrial encephalopathies. Nature 1990; 348: 651–3
  • Zeviani M, Gellera C, Antozzi C, et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALau(UUR). Lancet 1991; 338: 143–7
  • Huoponen K, Vilkki J, Aula P, Nikoskelainen E K., Savontaus M L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991; 48: 1147–53
  • Howell N, Bindoff L A., McCullough D A., et al. Leber hereditary optic neuroretinopathy: Identification of the same mitochondrial NDI mutation in six pedigrees. Am J Hum Genet 1991; 49: 939–50
  • Holt I J., Harding A E., Petty R KH, Morgan-Hughes J A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46: 428–33
  • Seibel P, Degoul F, Romero N, Marsac C, Kadenbach B. Identification of point mutations by mispairing PCR as exemplified in MERRF disease. Biochem Biophys Res Commun 1990; 173: 561–5
  • Zeviani M, Amati P, Bresolin N, et al. Rapid detection of the A G(B344) mutation of mtDNAin Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1991; 48: 203–11
  • Hammans S R., Sweeney M G., Brockington M, Morgan-Hughes J A., Harding A E. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991; 337: 1311–3
  • Yoneda M, Tanno Y, Nonaka I, Miyatake T, Tsuji S. Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer. Neurology 1991; 41: 1838–40
  • Seibel P, Degoul F, Bonne G, et al. Genetic biochemical and pathophysiologial characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci 1991; 105: 217–24
  • Syvänen A C., Aalto-Setälä K, Harju L, Kontula K, Söderlund H. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 1990; 8: 684–92
  • Syvänen A C., Söderlund H, Laaksonen E, Bengtström M, Turunen M, Palotie A. N-ras gene mutations in acute myeloid leukemia: accurate detection by solid-phase minisequencing. Int J Cancer 1992; 50: 713–8
  • Tanno Y, Yoneda M, Nonaka I, Tanaka K, Miyatake T, Tsuji S. Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. Biochem Biophys Res Commun 1991; 179: 880–5
  • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766–70
  • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874–9
  • Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon E A. Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. J Neurol Sci 1992, (in press)
  • Yoon K L., Modica-Napolitano J S., Ernst S G., Aprille J R. Denaturing gel method for mapping single base changes in human mitochondrial DNA. Anal Biochem 1991; 196: 427–32
  • Cortopassi G A., Arnheim N. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 1990; 18: 6927–33
  • Ozawa T, Tanaka M, Sugiyama S, et al. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 1990; 170: 830–6

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