Detection and quantification of the age-related point mutation A189G in the human mitochondrial DNA

Journal of Forensic Sciences

Volumn 51, Issue 4, 2006, Pages 865-873

  Thèves, Catherine ^a,b   Keyser Tracqui, Christine ^c   Crubézy, Eric ^b   Salles, Jean Pierre ^a   Ludes, Bertrand ^b,c   Telmon, Norbert ^b  

^a CHU PURPAN   (France)

^b CNRS   (France)

^c Molecular Anthropology Laboratory   (France)

Author keywords

Age related mutation; Detection methods; Forensic science; Heteroplasmy; Mitochondrial dna

Indexed keywords

ADENINE; DIGOXIGENIN; GUANINE; MITOCHONDRIAL DNA; PEPTIDE NUCLEIC ACID;

ADOLESCENT; ADULT; AGE DETERMINATION; AGED; AGING; ANTHROPOLOGY; ARTICLE; CHILD; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; FORENSIC MEDICINE; FORENSIC SCIENCE; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; INHERITANCE; MUSCLE; MUTATION RATE; NORMAL HUMAN; OLIGONUCLEOTIDE PROBE; POINT MUTATION; POPULATION GENETICS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AGING; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA PROBES; DNA, MITOCHONDRIAL; HUMANS; INFANT; MIDDLE AGED; MOUTH MUCOSA; PEPTIDE NUCLEIC ACIDS; POINT MUTATION; POLYMERASE CHAIN REACTION; PSOAS MUSCLES; SEQUENCE ANALYSIS, DNA;

EID: 33745738122     PISSN: 00221198     EISSN: 15564029     Source Type: Journal    
DOI: 10.1111/j.1556-4029.2006.00163.x     Document Type: Article

References (35)

1. Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 1999;286:774-9.
2. Murdock DG, Christacos NC, Wallace DC. The age-related accumulation of mitochondrial DNA control region mutation in muscle, but no brain, detected by a sensitive PNA-directed PCR clamping based method. Nucleic Acids Res 2000;28(21):4350-5.
3. Wang Y, Michikawa Y, Mallidis C, Bai Y, Woodhouse L, Yarasheski KE, et al. Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication. Proc Natl Acad Sci USA 2001;98(7):4022-7.
4. Del Bo R, Bordoni A, Boneschi FM, Crimi M, Sciacco M, Bresolin N, et al. Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondria patients. J Neurol Sci 2002;202(1-2):85-91.
5. Harman D. The biologic clock: the mitochondria? J Am Geriatr Soc 1972;20(4):145-7.
6. Linnane AW, Marzuki S, Ozawa T, Tanaka M. Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases. Lancet 1989;1:642-5.
7. Jazin EE, Cavelier L, Eriksson I, Oreland L, Gyllensten U. Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA. Proc Natl Acad Sci USA 1996;93:12382-7.
8. Wilson MR, Polanskey D, Replogle J, Di Zinno JA, Budowle B. A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes. Hum Genet 1997;100:167-71.
9. Calloway CD, Reynolds RL, Herrin GL Jr, Anderson WW. The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am J Hum Genet 2000;66:1384-97.
10. Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, et al. Nonrandom tissue distribution of mutant DNA. Am J Med Gen 1999;85:498-501.
11. Holtke HJ, Ankenbauer W, Muhlegger K, Rein R, Sagner G, Seibl R, et al. The digoxigenin (DIG) system for non-radioactive labelling and detection of nucleic acids - an overview. Cell Mol Biol 1995;41(7):883-905.
12. Ørum H. PCR clamping. Curr Issues Mol Biol 2000;2(1):27-30.
13. Kyger EM, Krevolin MD, Powell MJ. Detection of the hereditary hemochromatosis gene mutation by Real-Time fluorescence polymerase chain reaction and peptide nucleic acid clamping. Anal Biochem 1998;260:142-8.
14. Rosenblum BB, Lee LG, Spurgeon LG, Khan SH, Menchen SM, Heiner CR, et al. New dye-labeled terminators for improved DNA sequencing patterns. Nucleic Acids Res 1997;25(22):4500-4.
15. Nielsen PE, Elghom M, Buchardt O. Peptide nucleic acid (PNA), a DNA mimic with a peptide backbone. Bioconjugate Chem 1994;5:3-7.
16. Ørum H, Nielsen PE, Elghom M, Berg RH, Buchardt O, Stanley C. Single base pair mutation analysis by PNA directed PCR clamping. Nucleic Acids Res 1993;21(23):5332-6.
17. Wittwer CT, Herrmann MG, Moss AA, Rasmussen RP. Continuous fluorescence monitoring of rapid cycle DNA amplification. Biotechniques 1997;22:130-8.
18. Cattaneo C, Smillie DM, Gelsthorpe K, Piccinini A, Gelsthorpe AR, Sokol RJ. A simple method for extracting DNA from old skeletal material. Forensic Sci Int 1995;74:167-74.
19. Gibson UEM, Heid CA, Williams MP. A novel method for Real Time Quantitative RT-PCR. Genome Res 1996;6:995-1001.
20. Anderson S, Bankier AT, Barrel BG, de Bruijn MHL, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
21. Tully G, Bar W, Brinkmann B, Carracedo A, Gill P, Morling N, et al. Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclatures and interpretation of mitochondrial DNA profiles. Forensic Sci Int 2001;124:83-91.
22. Budowle B, Allard MW, Wilson MR. Critique of interpretation of high levels of heteroplasmy in the human mitochondrial DNA hypervariable region I from hair. Forensic Sci Int 2002;126:30-3.
23. Nagley P, Wei YH. Ageing and mammalian mitochondrial genetics. Trends Genet 1998;14(12):513-7.
24. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.
25. Chinnery PF, Taylor GA, Howell N, Brown DT, Parsons TJ, Turnbull DM. Point Mutations of the mtDNA control region in normal and neurodegenerative human brains. Am J Hum Genet 2001;68:529-32.
26. Rosenthal A, Charnock-Jones DS. New protocols for DNA sequencing with dye terminators. DNA Seq 1992;3:61-4.
27. Parker LT, Zakeri H, Deng Q, Spurgeon S, Kwok PY, Nickerson DA. AmpliTaq® DNA Polymerase, FS Dye-Terminator sequencing: analysis of peak height patterns. Biotechniques 1996;21:694-9.
28. Zakeri H, Amparo G, Chen SM, Spurgeon S, Kwok PY. Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing. Biotechniques 1998;25(3):406-14.
29. Korch C, Drabkin H. Improved DNA sequencing accuracy and detection of heterozygous alleles using manganese citrate and different fluorescent dye terminators. Genome Res 1999;9:588-95.
30. Tully LA, Parsons TJ, Steighner RJ, Holland MM, Marino MA, Prenger VL. A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency in hypervariable region 1 of the human mtDNA control region. Am J Hum Genet 2000;67:432-43.
31. Hancock DK, Tully LA, Levin BC. A standard reference material to determine the sensitivity of techniques for detecting low-frequency mutations, SNPs, and heteroplasmies in mitochondrial DNA. Genomics 2005;86:446-61.
32. Murdock DG, Wallace DC. PNA-mediated PCR clamping. In: Nielsen PE, editor. Methods in molecular biology, Vol 208: peptide nucleic acids: methods and protocols. Totowa NJ: Humana Press Inc, 2003:145-64.
33. Elghom M, Buchardt O, Christensen L, Behrens C, Freier SM, Driver DA, et al. PNA hybridizes to complementary oligonucleotides obeying the Watson-Crick hydrogen bonding rules. Nature 1993;365:556-68.
34. Wilhem J, Pingoud A, Hahn M. Comparison between Taq DNA polymerase and its Stoffel fragment for quantitative real-time PCR with hybridisation probes. Biotechniques 2001;30:1052-62.
35. Von Wurmb-Schwark N, Higuchi R, Fenech AP, Elfstroem C, Meissner C, Oehmichen M, et al. Quantification of human mitochondrial DNA in a real time PCR. Forensic Sci Int 2002;126:34-9.