Restriction fragment analysis as a source of error in detection of heteroplasmic mtDNA mutations

Mutation Research - Mutation Research Genomics

Volumn 406, Issue 2-4, 1999, Pages 109-114

  Finnilä, Saara ^a   Hassinen, Ilmo E ^a   Majamaa, Kari ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

Heteroplasmy; Mitochondrion; Population genetics; Restriction fragment length polymorphism

Indexed keywords

MITOCHONDRIAL DNA; OLIGONUCLEOTIDE; SODIUM CHLORIDE;

ARTICLE; BLOOD CELL; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DEGENERATIVE DISEASE; FINLAND; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUTATION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0032872102     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5726(99)00007-2     Document Type: Article

References (21)

1. Wallace D.C. Mitochondrial DNA sequence variation in human evolution and disease. Proc. Natl. Acad. Sci. U.S.A. 91:1994;8739-8746.
2. Wallace D.C. Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61:1992;1175-1212.
3. Larsson N.G., Clayton D.A. Molecular genetic aspects of human mitochondrial disorders. Annu. Rev. Genet. 29:1995;151-178.
4. Suomalainen A., Majander A., Pihko H., Peltonen L., Syvänen A.C. Quantification of tRNALeu3243 point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription. Hum. Mol. Genet. 2:1993;525-534.
5. Tully G., Sullivan K.M., Nixon P., Stones R.E., Gill P. Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing. Genomics. 34:1996;107-113.
6. Kameoka K., Isotani H., Tanaka K., Azukari K., Fujimura Y., Shiota Y., Sasaki E., Majima M., Furukawa K., Haginomori S., Kitaoka H., Ohsawa N. Novel mitochondrial DNA mutation in tRNALys (8296A→G) associated with diabetes. Biochem. Biophys. Res. Commun. 245:1998;523-527.
7. Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
8. Thomas A.W., Edwards A., Sherratt E.J., Majid A., Gagg J., Alcolado J.C. Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus. J. Med. Genet. 33:1996;253-255.
9. Zsurka G., Ormos J., Ivanyi B., Turi S., Endreffy E., Magyari M., Sonkodi S., Venetianer P. Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis. Hum. Genet. 99:1997;484-487.
10. Bidooki S.K., Johnson M.A., Chrzanowska-Lightowlers Z., Bindoff L.A., Lightowlers R.N. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am. J. Hum. Genet. 60:1997;1430-1438.
11. Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L., Scozzari R., Obinu D., Savontaus M.L., Wallace D.C. Classification of European mtDNAs from an analysis of three European populations. Genetics. 144:1996;1835-1850.
12. Shoffner J.M., Lott M.T., Lezza A.M., Seibel P., Ballinger S.W., Wallace D.C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 61(6):1990;931-937.
13. Ausenda C., Chomyn A. Purification of mitochondrial DNA from human cell cultures and placenta. Methods Enzymol. 264:1996;122-128.
14. Vuoristo M.M., Pihlajamaa T., Vandenberg P., Prockop D.J., Ala-Kokko L. The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens. J. Biol. Chem. 270:1995;22873-22881.
15. Moraes C.T., Ciacci F., Bonilla E., Jansen C., Hirano M., Rao N., Lovelace R.E., Rowland L.P., Schon E.A., DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? J. Clin. Invest. 92:1993;2906-2915.
16. Brown M.D., Sun F., Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 and 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 30:1997;857-865.
17. Torroni A., Petrozzi M., D'Urbano L., Sellito D., Zeviani M., Carrara F., Carducci C., Leuzzi V., Carelli V., Barboni P., De Negri A., Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60:1997;1107-1121.
18. leuUUR in patients with the MELAS phenotype. Hum. Mol. Genet. 4:1995;1689-1691.
19. Majamaa K., Moilanen J.S., Uimonen S., Remes A., Salmela P.I., Kärppä M., Majamaa-Voltti K.A.M., Rusanen H., Sorri M., Peuhkurinen K.J., Hassinen I.E. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am. J. Hum. Genet. 63:1998;447-454.
20. Hirano M., Shtilbans A., Mayeux R., Davidson M.M., DiMauro S., Knowles J.A., Schon E.A. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc. Natl. Acad. Sci. U.S.A. 94:1997;14894-14899.
21. Wallace D.C., Stugard C., Murdock D., Schurr T., Brown M.D. Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Proc. Natl. Acad. Sci. U.S.A. 94:1997;14900-14905.