Denaturing HPLC for Mutation Screening

Methods in Molecular Biology

Volumn 688, Issue , 2011, Pages 17-33

  Mitchell, Mike ^a   Cutler, Jacqueline ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

dHPLC; Gene analysis; Heteroduplex; Mutation detection; Mutation screening; RP HPLC; SNP detection; WAVE

Indexed keywords

DNA;

ANIMAL; ARTICLE; CATTLE; CHEMICAL STRUCTURE; CHEMISTRY; COMPUTER PROGRAM; CONFORMATION; DNA DENATURATION; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INSTRUMENTATION; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; RECYCLING;

ANIMALS; CATTLE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA MUTATIONAL ANALYSIS; EQUIPMENT REUSE; MODELS, MOLECULAR; MUTATION; NUCLEIC ACID CONFORMATION; NUCLEIC ACID DENATURATION; SOFTWARE;

EID: 79952116404     PISSN: 10643745     EISSN: 19406029     Source Type: Book Series    
DOI: 10.1007/978-1-60761-947-5_3     Document Type: Chapter

References (23)

1. Oefner PJ. (1995) Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC). Am J Hum Genet; 57: A266.
2. Oefner PJ, Underhill PA. (1999) DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). In: Dracopoli NC, Haines J, Korf BR, Morton C, Seidman CE, Seidman JG, Moir DT, Smith DR, editors Current Protocols in Human Genetics, Wiley, New York; pp. 7101–71012.
3. Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ. (1997) Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res; 7: 996–1005.
4. Kuklin A, Munson K, Gjerde D, Haefele R, Taylor P. (1997) Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. Genet Test; 1: 201–6.
5. Loyant V, Jaffre A, Breton J, Baldi I, Vital A, Chapon F, Dutoit S, Lecluse Y, Loiseau H, Lebailly P, Gauduchon P. (2005) Screening of TP53 mutations by DHPLC and sequencing in brain tumours from patients with an occupational exposure to pesticides or organic solvents. Mutagenesis; 20: 365–73.
6. Montagna G, Di Biase A, Cappa M, Melone MA, Piantadosi C, Colabianchi D, Patrono C, Attori L, Cannelli N, Cotrufo R, Salvati S, Santorelli FM. (2005) Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. Hum Mutat; 25: 222.
7. Oldenburg J, Ivaskevicius V, Rost S, Fregin A, White K, Holinski-Feder E, Muller CR, Weber BH. (2001) Evaluation of DHPLC in the analysis of hemophilia A. J Biochem Biophys Methods; 47: 39–51.
8. Ravnik-Glavac M, Atkinson A, Glavac D, Dean M. (2002) DHPLC screening of cystic fibrosis gene mutations. Hum Mutat; 19: 374–83.
9. Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R. (2000) Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Hum Mutat; 16: 177.
10. Su YN, Lee CN, Hung CC, Chen CA, Cheng WF, Tsao PN, Yu CL, Hsieh FJ. (2003) Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. Hum Mutat; 22: 326–36.
11. Takashima H, Boerkoel CF, Lupski JR. (2001) Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med; 3: 335–42.
12. Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P. (1999) Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics; 62: 369–76.
13. Wuyts W, Radersma R, Storm K, Vits L. (2005) An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondro-mas. Clin Genet; 68: 542–7.
14. Xu E, Lai M, Lv B, Xing X, Huang Q, Ma Y, Wang W. (2005) DHPLC analysis of the matrix metalloproteinase-1 promoter 1G/2G polymorphism that can be easily used to screen large population. J Biochem Biophys Methods; 63: 222–7.
15. Wolford JK, Blunt D, Ballecer C, Prochazka M. (2000) High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC). Hum Genet; 107: 483–7.
16. Azarani A, Hecker KH. (2001) RNA analysis by ion-pair reversed-phase high performance liquid chromatography. Nucleic Acids Res; 29: E7.
17. Fang N, Lin L, Ren J, Wu D. (2004) Detection of C677T mutation in methylenetetrahydro-folate reductase gene by denaturing high performance liquid chromatography. Biomed Chromatogr; 18: 625–9.
18. Keller G, Hartmann A, Mueller J, Hofler H. (2001) Denaturing high pressure liquid chromatography (DHPLC) for the analysis of somatic p53 mutations. Lab Invest; 81: 1735–7.
19. Betsalel OT, van de Kamp JM, Martinez-Munoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. (2008) Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics; 9: 183–90.
20. Jones AC, Sampson JR, Cheadle JP. (2001) Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat; 17: 233–4.
21. Lu C, Xu HM, Ren Q, Ao Y, Wang ZN, Ao X, Jiang L, Luo Y, Zhang X. (2003) Somatic mutation analysis of p53 and ST7 tumor suppressor genes in gastric carcinoma by DHPLC. World J Gastroenterol; 9: 2662–5.
22. Rugg EL, Magee GJ. (2005) Use of denaturing high-performance liquid chromatography in molecular medicine. In: Walker JM, Rapley R, editors. Medical Biomethods Handbook, Springer, Totowa, NJ; pp 315–325.
23. Harvey J, Schollen E. (2004). Practice Guidelines for the Use of the WAVE System in Diagnostic Service. CMGS: http://cmg-s web. shar ed. host i ng. zen. co. uk/BPGs/pdfs%20current%20bpgs/DHPLC.pdf.