Quantitative allele-specific PCR: Demonstration of age-associated accumulation in human tissues of the A→G mutation at nucleotide 3243 in mitochondrial DNA

Human Mutation

Volumn 9, Issue 3, 1997, Pages 265-271

  Liu, Vincent W S ^a   Zhang, Chunfang ^a   Linnane, Anthony W ^a   Nagley, Phillip ^a  

^a MONASH UNIVERSITY   (Australia)

Author keywords

aging; allele specific PCR; base substitution; mitochondrial DNA; somatic mutation

Indexed keywords

MITOCHONDRIAL DNA;

AGING; ALLELE; ARTICLE; GENE MUTATION; HUMAN; HUMAN TISSUE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ASSAY; STANDARDIZATION;

ADULT; AGED; AGING; ALLELES; DNA, MITOCHONDRIAL; HUMANS; INFANT; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 0030931198     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:3<265::AID-HUMU8>3.0.CO;2-6     Document Type: Article

References (15)

1. Baumer A, Zhang C, Linnane AW, Nagley P (1994) Age-related human mtDNA deletions: A heterogeneous set of deletions arising at a single pair of directly repeated sequences. Am J Hum Genet 54:618-630.
2. Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon E (1995) Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 57:239-247.
3. Cortopassi GA, Arnheim N (1990) Detection of a specific mitochondrial DNA deletion in tissues of older human. Nucleic Acids Res 18:6927-6933.
4. Hayashi N, Arakawa H, Nagase H, Yanagisawa A, Kato Y, Ohta H, Takano S, Ogawa M, Nakamura Y (1994) Genetic diagnosis identifies occult lymph node metastases undetectable by the histopathological method. Cancer Res 54:3853-3856.
5. Kwok S, Chang SY, Sninsky JJ, Wang A (1994) A guide to the use of mismatched and degenerate primers. PCR Methods Applic 3:S39-S47.
6. Linnane AW, Baumer A, Maxwell RJ, Preston H, Zhang CF, Marzuki S (1990) Mitochondrial gene mutation: the ageing process and degenerative diseases. Biochem Int 22:1067-1076.
7. Linnane AW, Zhang CF, Baumer A, Nagley P (1992) Mitochondrial DNA mutation and the process: Bioenergy and pharmacological intervention. Mutat Res 275:195-208.
8. Münscher C, Rieger T, Müller-Höcker J, Kadenbach B (1993a) The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett 317:27-30.
9. Münscher C, Müller-Höcker], Kadenbach B (1993b) Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol Chem Hoppe-Seyler 374:1099-1104.
10. Nakazawa H, English D, Randell PL, Nakazawa K, Martel N, Armstrong BK, Yamasaki H (1994) UV and skin cancer: Specific p53 gene mutation in normal skin as a biologically relevant exposure measurement. Proc Natl Acad Sci USA 91:360-364.
11. Simonetti S, Chen X, DiMauro S, Schon EA (1992) Accumulation of deletions in human mitochondrial DN A during normal aging: analysis by quantitative PCR. Biochim Biophys Acta 1180:113-122.
12. Wallace DC (1992) Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science 256:628-632.
13. Wu DY, Ugozzoli L, Oal BK, Wallace RB (1989) Allele-specific enrymatic amplification of β-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci USA 86:2757-2760.
14. Zhang C, Baumer A, Maxwell RJ, Linnane AW, Nagley P (1992) Multiple mitochondrial DNA deletions in an elderly human individual. FEES Lett 297:34-38.
15. Zhang C, Linnane A, Nagley P (1993) Occurrence of a particular base substitution (3243 A to O) in mitochondrial DNA of tissues of ageing humans. Biochem Biophys Res Commun 195: 1104-1110.