Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography

Molecular Genetics and Metabolism

Volumn 84, Issue 1, 2005, Pages 61-74

  Biggin, Andrew ^a   Henke, Robert ^b   Bennetts, Bruce ^a,c   Thorburn, David R ^d,e   Christodoulou, John ^a,c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b 2/390 Canterbury Road   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

DHPLC; DNA; Heteroplasmy; Mitochondrial genome; Mutation detection; Pyrosequencing

Indexed keywords

MITOCHONDRIAL DNA;

AMINO ACID SUBSTITUTION; ARTICLE; COST EFFECTIVENESS ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DNA SEQUENCE; GENE AMPLIFICATION; GENETIC SCREENING; HUMAN; MITOCHONDRIAL GENETICS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; SITE DIRECTED MUTAGENESIS; VALIDATION PROCESS;

BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, MITOCHONDRIAL; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 11444267614     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.09.011     Document Type: Article

References (34)

1. S. DiMauro, and E.A. Schon Mitochondrial DNA mutations in human disease Am. J. Med. Genet. 106 2001 18 26
2. S. Anderson, A.T. Bankier, B.G. Barrel, M. DeBruijin, A.R. Coulson, J. Drouin, I.C. Eperon, D.P. Nierlich, B.A. Roe, F. Sanger, P.H. Schreier, A. Smith, R. Staden, and I.G. Young Sequence and organization of the human mitochondrial genome Nature 290 1981 457 465
3. A. Munnich, and P. Rustin Clinical spectrum and diagnosis of mitochondrial disorders Am. J. Med. Genet. 106 2001 4 17
4. S.M.D. DiMauro, and C.T. Moraes Mitochondrial encephalomyopathies Arch. Neurol. 50 1993 1197 1208
5. MITOMAP (D.C. Wallace, M.T. Lott, "MITOMAP: A Human Mitochondrial Genome Database www.mitomap.org, 2004.)
6. M. Zeviani, and C. Antozzi Mitochondrial disorders Mol. Hum. Reprod. 3 1997 133 148
7. C.-Y. Lu, D.-J. Tso, T. Yang, Y.-J. Jong, and Y.-H. Wei Detection of DNA mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer Clin. Chim. Acta 318 2001 97 105
8. C. Eng, and J. Vijg Genetic testing Nat. Biotechnol. 15 1997 422 426
9. N.J. Van Orsouw, X. Zhang, J.Y. Wei, D.R. Johns, and J. Vijg Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis Genomics 52 1998 27 36
10. W. Xiao, and P.J. Oefner Denaturing high-performance liquid chromatography: a review Hum. Mut. 17 2001 439 474
11. C. Le Marechal, M.P. Audrezet, I. Quere, O. Raguenes, S. Langonne, and C. Ferec Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC) Hum. Genet. 108 2001 290 298
12. C. Eng, L.C. Brody, T.M.U. Wagner, P. Devilee, J. Vijg, C. Szabo, S.V. Tavtigian, K.L. Nathanson, E. Ostrander, and T.S. Frank Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 J. Med. Genet. 38 2001 824 833
13. U. Zur Stadt, J. Rischewski, R. Schneppenheim, and H. Kabisch Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia Clin. Chem. 47 2001 2003 2011
14. H. Fakhrai-Rad, N. Pourmand, and M. Ronaghi Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms Hum. Mut. 19 2002 479 485
15. H. Andreasson, A. Asp, A. Alderborn, U. Gyllensten, and M. Allen Mitochondrial sequence analysis for forensic identification using pyrosequencing technology Biotechniques 32 2002 124 126
16. B.J. Van Den Bosch, R.F. de Coo, H.R. Scholte, J.G. Nijland, R. van Den Bogaard, M. de Visser, C.E.M. de Die-Smulders, and H.J.M. Smeets Mutation analysis of the entire mitochondrial genome using denaturing high-performance liquid chromatography Nucleic Acids Res. 28 2000 E89
17. M.-R. Liu, K.-F. Pan, Z.-F. Li, Y. Wang, D.-J. Deng, L. Zhang, and Y.-Y. Lu Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography World J. Gastroenterol. 8 2002 426 430
18. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res. 16 1988 1215
19. Varian Inc, Standard Operating Procedure. Rev 7. 2001
20. K.E. Gustin, and R.D. Burk A rapid method for generating linker scanning mutants utilizing PCR Biotechniques 14 1993 22 24
21. A.C. Jones, J. Austin, N. Hansen, B. Hoogendoorn, P.J. Oefner, J.P. Cheadle, and M.C. O'Donovan Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis Clin. Chem. 45 1999 1133 1140
22. M. Ronaghi Improved performance of pyrosequencing using single-stranded DNA-binding protein Anal. Biochem. 286 2000 282 288
23. M.C. O'Donovan, P.J. Oefner, S.C. Roberts, J. Austin, B. Hoogendoorn, C. Guy, G. Speight, M. Upadhyaya, S.S. Sommer, and P. McGuffin Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection Genomics 52 1998 44 49
24. T.R. Skopek, W.E. Glaab, J.J. Monroe, K.L. Kort, and W. Schaefer Analysis of sequence alterations in a defined DNA region: comparison of temperature-modulated heteroduplex analysis and denaturing gradient gel electrophoresis Mutat. Res. 430 1999 13 21
25. R.H. Don, P.T. Cox, B.J. Wainwright, K. Baker, and J.S. Mattick 'Touchdown' PCR to circumvent spurious priming during gene amplification Nucleic Acids Res. 19 1991 4008
26. J. Cline, J.C. Braman, and H.H. Hogrefe PCR fidelity of Pfu DNA polymerase and other thermostable DNA polymerases Nucleic Acids Res. 24 1996 3546 3551
27. S.L. White, V.R. Collins, R. Wolfe, M.A. Cleary, S. Shanske, S. DiMauro, H.H. Dahl, and D.R. Thorburn Genetic counselling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 Am. J. Hum. Genet. 65 1999 474 482
28. D.R. Thorburn, and H.H. Dahl Mitochondrial disorders: genetics, counselling, prenatal diagnosis and reproductive options Am. J. Med. Genet. 106 2001 102 114
29. A.M. Kogelnik, M.T. Lott, M.D. Brown, S.B. Navathe, and D.C. Wallace MITOMAP: a human mitochondrial genome database-1998 update Nucleic Acids Res 26 1998 112 115
30. W.O. Liu, P.J. Oefner, C. Qian, R.S. Odom, and U. Francke Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders Genet. Test. 1 1997 237 242
31. T.M.U. Wagner, D. Stoppa-Lyonnet, E. Fleischmann, D. Muhr, S. Pagès, T. Sandberg, V. Caux, R. Moeslinger, G. Langbauer, A. Borg, and P. Oefner Denaturing high-performance liquid chromatography (DHPLC) detects reliably BRCA1 and BRCA2 mutations Genomics 62 1996 369 376
32. M. Faham, and D.R. Cox A novel in vivo method to detect DNA sequence variation Genome Res. 5 1995 474 482
33. R. Drmanac, S. Drmanac, G. Chui, R. Diaz, A. Hou, H. Jin, P. Jin, S. Kwon, S. Lacy, B. Moeur, J. Shafto, D. Swanson, T. Ukrainczyk, C. Xu, and D. Little Sequencing by hybridisation (SBH): advantages, achievements, and opportunities Adv. Biochem. Eng. Biotechnol. 77 2002 75 101
34. H. Fakhrai-Rad, J. Zheng, T.D. Willis, K. Wong, K. Suyenaga, M. Moorhead, J. Eberle, Y.R. Thorstenson, T. Jones, R.W. Davis, E. Namsaraev, and M. Faham SNP discovery in pooled samples with mismatch repair detection Genome Res. 14 2004 1404 1412