The polymerase chain reaction in the study of mitochondrial genetics

Journal of Biochemical and Biophysical Methods

Volumn 36, Issue 1, 1997, Pages 31-50

  Kapsa, Robert ^a   Siregar, Nurjati ^a   Quigley, Anita ^a   Ojaimi, Joseline ^a   Katsabanis, Sophie ^a   Sue, Carolyn ^a   Byrne, Edward ^a  

^a Melbourne Neuromuscular Res Inst   (Australia)

Author keywords

Human mitochondrial genetics; In situ PCR and long PCR; Polymerase chain reaction (PCR)

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; GENE MAPPING; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

BASE SEQUENCE; DNA PRIMERS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MELAS SYNDROME; MITOCHONDRIA; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; OPTIC ATROPHIES, HEREDITARY; PLACENTA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY;

EID: 0031409609     PISSN: 0165022X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-022X(97)00044-4     Document Type: Article

References (33)

1. Luft R., Ikkos D., Palmieri G., Ernster L., Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study. J Clin Invest. 41:1962;1776.
2. Wallace DC, Lott MT, Brown MD, Huoponen K, Torroni A. Report of the committee on human mitochondrial DNA. In: Cuticchia AJ, ed. Human gene mapping 1995: a compendium. Baltimore: Johns Hopkins University Press, 1995:910-954.
3. Davis LG, Dibner MD, Battey JF. Basic methods in molecular biology. New York: Elsevier, 1986.
4. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning-A laboratory Manual. Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 1989.
5. Kotsimbos N., Jean-Francois M.J.B., Huizing M., Kapsa R.M.I., Lertrit P., Siregar N.C., Sue C., Byrne E. Rapid and noninvasive screening of patients with mitochondrial myopathy. Hum Mut. 4:1994;132-135.
6. Ozawa T., Tanaka M., Ikebe S., Ohno K., Kondo T., Mizuno Y. Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis. Biochem Biophys Res Comm. 172:1990;483-489.
7. Fassati A., Bordoni A., Amboni P., Fortunato F., Fagiolari G., Bresolin N., Prelle A., Comi G., Scarlato G. Chronic progressive external ophthalmoplegia: A correlative study of quantitative molecular data and histochemical and biochemical profile. J Neurol Sci. 123:1994;140-146.
8. Anderson S., Bankier A.T., Barell B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C.et al. Sequence and organization of the human mitochondrial genome. Nature. 9:1981;457-465.
9. Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E. Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 88:1991;139-145.
10. Wallace D.C., Singh G., Lott M.T. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 242:1988;1427-1430.
11. Yoneda M., Tanno Y., Horai S., Ozawa T., Miyatake T., Tsuji S. A common mitochondrial DNA mutation in the mtRNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Intl. 21:1990;789-796.
12. Ozawa T., Tanaka M., Ino H., Ohno K., Sano T., Wada Y.et al. Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease. Biochem Biophys Res Comm. 176:1991;938-946.
13. Ozawa T., Tanaka M., Sugiyaina S., Ino H., Ohno K., Hattori K.et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitachondrial encephalomyopathy. Biochem Biophys Res Comm. 177:1991;518-525.
14. Kobayashi Y., Momoi M.Y., Taminaga K., Momoi T., Nihei K., Yanagisawa M., Kagawa Y., Ohta S. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Comm. 173:1990;816-822.
15. Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 10:1992;163-173.
16. Brown M.D., Voljavec A.S., Lott M.T., MacDonald I., Wallace D.C. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. [Review]. FASEB J. 6:1992;2791-2799.
17. Ozawa T. Mitochondrial cardiomyopathy. Herz. 19:1994;105-118.
18. Lertrit P., Kapsa R.M.I., Jean-Francois M.J.B., Thyagarajan D., Noer A.S., Marzuki S., Byrne E. Mitochondrial DNA polymorphism in disease: A possible contributor to respiratory dysfunction. Hum Mol Genet. 3(11):1994;1973-1981.
19. Kapsa R.M.I., Jean-Francois M.J.B., Lertrit P., Weng S., Siregar N.C., Ojaimi J., Donnan G., Masters C., Byrne E. Mitochondrial DNA polymorphism in Substantia Nigra. J Neurol Sci. 144:1996;204-211.
20. Rao V.B., Saunders N.B. A rapid polymerase chain reaction directed sequencing strategy using a thermostable DNA polymerase from Thermus flavus. Gene. 113:1992;17-23.
21. Kainz P., Schmiedlechner A., Strack H. In vitro amplification of DNA fragments 10 kb. Analytical Biochem. 202:1992;46-49.
22. Cheng S., Higuchi R., Stoneking M. Complete mitochondrial genome amplification. Nature Genet. 7:1994;350-351.
23. Marzuki S, Berkovic SF, Noer AS, Kapsa RMI, Kalnins R, Byrne E, Sasmono T, Sudoyo H. Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy. J Neurol Sci (1997) (in press).
24. Muller-Hocker J. Cytochrome oxidase deficient cardiomyocytes in the human heart, an age-related phenomenon. Am J Pathol. 134:1989;1167-1171.
25. Collins S., Rudduck C., Marzuki S., Dennett X., Byrne E. Mitochondrial genome distribution in histochemically cytochrome c oxidase-negative muscle fibres in patients with a mixture of deleted and wild type mitochondrial DNA. Biochim Biophys Acta. 1097:1991;309-317.
26. King M.P., Koga Y., Davidson M., Schon E.A. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondria myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biology. 12:1992;480-490.
27. Hayashi J.I., Ohta S., Takai D., Miyabayashi S., Sakuta R., Goto Y.I., Nonaka I. Accumulation of mtDNA with a mutation at position 3271 in tRNA-Leu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. Biochem Biophys Res Comm. 197:1993;1049-1055.
28. Silvestri G., Ciafaloni E., Santorelli F.M., Shanske S., Servidei S., Graf W.D., Sumi M., DiMauro S. Clinical features associated with the A fwdarw G transition at nucleotide 8344 of mtDNA ('MERRF mutation'). Neurology. 43:1993;1200-1206.
29. Juvonen V., Huoponen K., Syvanen A.C., Nikoskelainen E., Savontaus M.L. Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase mini sequencing. Hum Genet. 93:1994;16-20.
30. Zhang C., Linnane A.W., Nagley P. Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA, of tissues of ageing humans. Biochem Biophys Res Comm. 195:1993;1104-1110.
31. Linz U. Thermocycler temperature variation invalidates PCR results. Biotechniques. 9(3):1990;286-293.
32. Hoelzel R. The trouble with PCR; machines. Trends Genet. 6(8):1990;237-238.
33. Van Leuven F. The trouble with PCR machines: Fill up the empty spaces. Trends Genet. 7(5):1991;142.