Clinical applications of denaturing high-performance liquid chromatography-based genotyping

Croatian Medical Journal

Volumn 44, Issue 4, 2003, Pages 447-454

  Danielson, Phillip B ^a   Shelton, Robert J ^a   LaBerge, Greggory S ^b,c  

^a UNIVERSITY OF DENVER   (United States)

^b Crime Laboratory Bureau   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

Chromatography, high pressure liquid; DNA mutational analysis; Genetic diseases, inborn; Mutation; Polymerase chain reaction; Polymorphism, single stranded conformational; Sequence analysis, DNA

Indexed keywords

HETERODUPLEX; MITOCHONDRIAL DNA;

AMPLICON; ARTICLE; CONTROLLED STUDY; CROSS HYBRIDIZATION; DENATURATION; DNA SEQUENCE; EXTRACHROMOSOMAL INHERITANCE; GENE AMPLIFICATION; GENE LOCUS; GENOTYPE; HETERODUPLEX ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TEMPERATURE DEPENDENCE;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REFERENCE VALUES; SAMPLING STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 0041336711     PISSN: 03539504     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Hofmann E. What can medicine learn from the human DNA sequence? Biochemistry (Mosc) 2001;66:1144-52.
2. Chanock S, Wacholder S. One gene and one outcome? No way. Trends Mol Med 2002;8:266-9.
3. McGinnis R. Treasure hunting in a new era: genotyping of single nucleotide polymorphisms and the search for complex disease genes by association scans. Psychiatr Genet 2002;12:63-6
4. Zak NB, Shifman S, Shalom A, Darvasi A. Genetic dissection of common diseases. Isr Med Assoc J 2002;4:438-43.
5. Barton A, Chapman P, Myerscough A, Pinel T, Davies N, Worthington J, et al. The single-nucleotide polymorphism lottery: how useful are a few common SNPs in identifying disease-associated alleles? Genet Epidemiol 2001;21 Suppl 1:S384-9.
6. Majores M, Kolsch H, Bagli M, Ptok U, Kockler M, Becker K, et al. The insulin gene VNTR polymorphism in Alzheimer's disease: results of a pilot study. J Neural Transm 2002;109:1029-34.
7. Le Stunff C, Fallin D, Bougneres P. Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity. Nat Genet 2001;29:96-9.
8. Zhang G, Zhang S, Chen W, Qiu W, Wu H, Wang J, et al. Go!Poly: A gene-oriented polymorphism database. Hum Mutat 2001;18:382-7.
9. Kado N, Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, et al. Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod 2002;17:897-902.
10. Feng Y, Niu T, Xu X, Chen C, Li Q, Qian R, et al. Insertion/deletion polymorphism of the ACE gene is associated with type 2 diabetes. Diabetes 2002;51:1986-8.
11. Haga H, Yamada R, Ohnishi Y, Nakamura Y, Tanaka T. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism. J Hum Genet 2002;47:605-10.
12. Anzick SL, Trent JM. Role of genomics in identifying new targets for cancer therapy. Oncology (Huntingt) 2002;16(5 Suppl 4):7-13.
13. Brightwell G, Wycherley R, Potts G, Waghorn A. A high-density SNP map for the FRAX region of the X chromosome. Single-nucleotide polymorphisms. J Hum Genet 2002;47:567-75.
14. Antonellis A, Rogus JJ, Canani LH, Makita Y, Pezzolesi MG, Nam M, et al. A method for developing high-density SNP maps and its application at the type 1 angiotensin II receptor (AGTR1) locus. Genomics 2002;79:326-32.
15. Linacre A, Graham D. Role of molecular diagnostics in forensic science. Expert Rev Mol Diagn 2002;2:346-53.
16. Wang B, Ding M, Pang H, Zhao D. Primary study on genetic polymorphism and population difference of locus DYF155S1 [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002;19:397-400.
17. Muller S, Flekna G, Muller M, Brem G. Use of canine microsatellite polymorphisms in forensic examinations. J Hered 1999;90:55-6.
18. Myers RM, Larin Z, Maniatis T. Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science 1985;230:1242-6.
19. Smooker PM, Cotton RG. The use of chemical reagents in the detection of DNA mutations. Mutat Res 1993;288:65-77.
20. Fischer SG, Lerman LS. Two-dimensional electrophoretic separation of restriction enzyme fragments of DNA. Methods Enzymol 1979;68:183-91.
21. Abrams ES, Stanton VP Jr. Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids. Methods Enzymol 1992;212:71-104.
22. Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet 2002;39:34-41.
23. Walsh TJ, Francesconi A, Kasai M, Chanock SJ. PCR and single-strand conformational polymorphism for recognition of medically important opportunistic fungi. J Clin Microbiol 1995;33:3216-20.
24. Wong LJ, Senadheera D. Direct detection of multiple point mutations in mitochondrial DNA. Clin Chem 1997;43:1857-61.
25. Dessauer HC, Reeder TW, Cole CJ, Knight A. Rapid screening of DNA diversity using dot-blot technology and allele-specific oligonucleotides: maternity of hybrids and unisexual clones of hybrid origin (lizards, Cnemidophorus). Mol Phylogenet Evol 1996;6:366-72.
26. Abravaya K, Carrino JJ, Muldoon S, Lee HH. Detection of point mutations with a modified ligase chain reaction (Gap-LCR). Nucleic Acids Res 1995;23:675-82.
27. Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 1998;26:1396-400.
28. Hou Y, Zhang S. Temperature-modulated high-performance liquid chromatography for detecting variation in human genome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2000;17:145-8.
29. Spiegelman JI, Mindrinos MN, Oefner PJ. High-accuracy DNA sequence variation screening by DHPLC. Biotechniques 2000;29:1084-90.
30. Wilson MR, DiZinno JA, Polanskey D, Replogle J, Budowle B. Validation of mitochondrial DNA sequencing for forensic casework analysis. Int J Legal Med 1995;108:68-74.
31. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
32. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-7.
33. Don RH, Cox PT, Wainwright BJ, Baker K, Mattick JS. 'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res 1991;19:4008.
34. Kuklin A, Munson K, Gjerde D, Haefele R, Taylor R. Detection of single-nucleotide polymorphisms with the WAVE™ DNA Fragment Analysis System. Genet Test 1997-98;1:201-6.
35. Huber CG, Oefner PJ, Bonn GK. Rapid analysis of biopolymers on modified non-porous polystyrene-divenylbenzene particles. Chromatographia 1993;37:653-8.
36. Budowle B, Smith AJ, Moretti T, DiZinno JA. DNA typing protocols: molecular biology and forensic analysis. Natick (MA): Biotechniques Books; 2000.
37. Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001;124(Pt 1):2 09-18.
38. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-74.