Detection and analysis of mitochondrial DNA deletions by whole genome PCR

Biochemical and Molecular Medicine

Volumn 58, Issue 1, 1996, Pages 130-134

  Tengan, Célia H ^a,b   Moraes, Carlos T ^a,c  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF MIAMI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGING; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE REARRANGEMENT; GENOME; HUMAN; HUMAN TISSUE; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

EID: 0030176430     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0040     Document Type: Article

References (18)

1. 1. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212, 1992.
2. 2. DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 50:1197-1208, 1993.
3. 3. Rotig A, Bourgeron T, Rustin P, Munnich A. Phenotypic expression of mitochondrial genotypes in cultures skin fibroblast and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome. Muscle Nerve Suppl 3:S159-S164, 1995.
4. 4. Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC. Maternally transmitted diabetes and deafness associated with a 10.4kb mitochondrial DNA deletion. Nature Genet 1:11-15, 1992.
5. 5. Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, Beal MF, Wallace DC. Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age. Nature Genet 2:324-329, 1992.
6. 6. Cortopassi GA, Shibata D, Soong N-W, Arnheim N. A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci USA 89:7370-7374, 1992.
7. 7. Torii K, Sugiyama S, Tanaka M, Takagi K, Hanaki Y, Iida K, Matsuyama M, Hirabayashi N, Uno Y, Ozawa T. Aging-associated deletions of human diaphragmatic mitochondrial DNA. Am J Respir Cell Mol Biol 6:543-549, 1992.
8. 8. Barnes WM. PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates. Proc Natl Acad Sci USA 91:2216-2220, 1994.
9. 9. Cheng S, Fockler C, Barnes WM, Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci USA 91:5695-5699, 1994.
10. 10. Cheng S, Higuchi R, Stoneking M. Complete mitochondrial genome amplification. Nature Genet 7:350-351, 1994.
11. 11. Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38:1339-1346, 1988.
12. Leu(UUR) gene an etiologic hot spot? J Clin Invest 92:2906-2915, 1993.
13. 13. Wallace DC, Lott MT, Brown MD, Huoponen K, Torrom A. Report of the committee on human mitochondrial DNA. Online data base, http://infinity.gen.emory.edu/mitomap.html, 1995.
14. 14. Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi G, Koga Y, DiMauro S, Schon EA. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 18:561-567, 1990.
15. 15. Cooper JM, Mann VM, Schapira AHV. Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: Effect of ageing. J Neurol Sci 113:91-98, 1992.
16. 16. Li Y-Y, Hengstenberg C, Maisch B. Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 210:211-218, 1995.
17. 17. Reynier P, Pellissier J-F, Harle J-R, Malthiéry I. Multiple deletions of the mitochondrial DNA in polymyalgia rheumatica. Biochem Biophys Res Commun 205:375-380, 1994.
18. 18. Poulton J, Morten KJ, Weber K, Brown GK, Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 3:947-951, 1994.