Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation

Journal of Molecular Diagnostics

Volumn 10, Issue 1, 2008, Pages 102-108

  Kok, Seong Lim ^a   Naviaux, Robert K ^b,c   Wong, Scott ^a   Haas, Richard H ^a,c,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BLOOD ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DNA SEQUENCE; FALSE NEGATIVE RESULT; FEMALE; GENE MUTATION; HUMAN; MELAS SYNDROME; MUTANT; MUTATIONAL ANALYSIS; SITE DIRECTED MUTAGENESIS; WILD TYPE;

EID: 38749105859     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2008.070081     Document Type: Article

References (23)

1. 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, 86:446-461
2. Bakker E: Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed. Clin Chem 2006, 52:557-558
3. van der Heiden IP, van der Werf M, Lindemans J, van Schaik RH: Sequencing: not always the "gold standard." Clin Chem 2004, 50:248-249
4. Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo, DC: Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A 2004, 130:134-137
5. Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM: Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 1999, 85:498-501
6. Frederiksen AL, Andersen PH, Kyvik KO, Jeppesen TD, Vissing J, Schwartz M: Tissue specific distribution of the 3243A->G mtDNA mutation. J Med Genet 2006, 43:671-677
7. Asano T, Tsukuda K, Katagiri H, Onishi Y, Sakoda H, Ono H, Ogihara T, Funaki M, Anai M, Inukai K, Fujishiro M, Fukushima Y, Yamasoba T, Oka T, Kikuchi M, Oka Y: Clinical relevance of heteroplasmic concentration of mitochondrial A3243G mutation in leucocytes. Diabetologia 1999, 42:1439-1440
8. Olsson C, Zethelius B, Lagerstrom-Fermer M, Asplund J, Berne C, Landegren U: Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness. Hum Mutat 1998, 12:52-58
9. Wulfert M, Tapprich C, Gattermann N: Optimized PCR fragments for heteroduplex analysis of the whole human mitochondrial genome with denaturing HPLC. J Chromatogr B Analyt Technol Biomed Life Sci 2006, 831:236-247
10. Meierhofer D, Mayr JA, Ebner S, Sperl W, Kofler B: Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 2005, 5:282-296
11. Su YN, Lee CN, Hung CC, Chen CA, Cheng WF, Tsao PN, Yu CL, Hsieh FJ: Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. Hum Mutat 2003, 22:326-336
12. Nickerson ML, Warren MB, Zbar B, Schmidt LS: Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods. Hum Mutat 2001, 17:210-219
13. Nickerson ML, Weirich G, Zbar B, Schmidt LS: Signature-based analysis of MET proto-oncogene mutations using DHPLC. Hum Mutat 2000, 16:68-76
14. Gross E, Arnold N, Pfeifer K, Bandick K, Kiechle M: Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum Mutat 2000, 16:345-353
15. Ezzeldin H, Okamoto Y, Johnson MR, Diasio RB: A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency. Anal Biochem 2002, 306:63-73
16. O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P: Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 1998, 52:44-49
17. Bayat A, Walter J, Lamb H, Marino M, Ferguson MW, Ollier WE: Mitochondrial mutation detection using enhanced multiplex denaturing high-performance liquid chromatography. Int J Immunogenet 2005, 32:199-205
18. van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ: Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res 2000, 28:E89
19. Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J: Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Mol Genet Metab 2005, 84:61-74
20. Lim KS, Naviaux RK, Haas RH: Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Clin Chem 2007, 53:1046-1052
21. Gjerde DT, Hanna CP, Hornby, D: DNA Chromatography. Weinheim, Germany, Wiley-VCH Verlag GmbH, 2002, pp 7-107
22. Ruano G, Kidd KK: Modeling of heteroduplex formation during PCR from mixtures of DNA templates. PCR Methods Appl 1992, 2:112-116
23. Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001, 17:439-474