Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection

Genomics

Volumn 52, Issue 1, 1998, Pages 44-49

  O'Donovan, Michael C ^a   Oefner, Peter J ^b   Roberts, Stacy C ^c   Austin, Jehannine ^a   Hoogendoorn, Bastiaan ^a   Guy, Carol ^a   Speight, Graham ^a   Upadhyaya, Meena ^a   Sommer, Steve S ^c   McGuffin, Peter ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b STANFORD UNIVERSITY   (United States)

^c Dept of Molec Genet and Molec D ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXON; GENE MUTATION; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; NEUROFIBROMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0032529112     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5411     Document Type: Article

References (23)

1. Cotton R. G. H. Slowly but surely towards better scanning for mutations. Trends Genet. Sci. 13:1997;43-46.
2. Cotton R. G. H., Rodrigues N. R., Campbell R. D. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Natl. Acad. Sci. USA. 85:1988;4397-4401.
3. Goldrick M. M., Kimball G. R., Liu Q., Martin L. A., Sommer S. S., Tseng J. Y-H. NIRCA: A rapid robust method for screening for unknown point mutations. BioTechniques. 21:1996;106-112.
4. Gustafson S., Proper J. A., Bowie E. J. W., Sommer S. S. Parameters affecting the yield of DNA from human blood. Anal. Biochem. 165:1987;294-299.
5. Hayashi K., Yandell D. W. How sensitive is PCR-SSCA. Hum. Mutat. 2:1993;338-346.
6. Ke S-H., Wartell R. M. Influence of nearest neighbour sequence on the stability of base pair mismatches in long DNA: Determination by temperature-gradient gel electrophoresis. Nucleic Acids Res. 21:1993;5137-5143.
7. Li Y., O'Connell P., Breidenbach H., Cawthon R., Stevens J., Xu G., Neil S., Robertson M., White R., Viskochil D. Genomic organisation of the neurofibromatosis 1 gene (NF1). Genomics. 25:1995;9-18.
8. Liu Q., Feng J., Sommer S. S. Bi-directional dideoxy fingerprinting (Bi-ddF): A rapid method for quantitative detection of mutations in genomic regions of 300-600 bp. Hum. Mol. Genet. 5:1996;107-114.
9. Liu Q., Sommer S. S. Parameters affecting the sensitivities of dideoxy fingerprinting and SSCA. PCR Methods Appl. 4:1994;97-108.
10. Marshal R. D., Koontz J., Sklar J. Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases. Nat. Genet. 9:1995;177-183.
11. Myers R. M., Lumelsky N., Lerman L. S., Maniatis T. Detection of single base substitutions in total genomic DNA. Nature. 313:1985a;495-498.
12. Myers R. M., Larin Z., Maniatis T. Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science. 230:1985b;1242-1249.
13. Oefner P. J., Underhill P. A. Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am. J. Hum. Genet. 57:1995;A266.
14. 2+. Cell. 87:1996;543-552.
15. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:1989;874-879.
16. Sarkar G., Yoon H-S., Sommer S. S. Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): Comparison with DNA-SSCA. Nucleic Acids Res. 20:1992a;871-878.
17. Sarkar G., Yoon H-S., Sommer S. S. Dideoxy fingerprinting (ddf): A rapid and efficient screen for the presence of mutations. Genomics. 13:1992b;441-443.
18. Sheffield V. C., Beck J. S., Kwitek A. E., Sandstrom D. W., Stone E. M. The sensitivity of single-strand conformation polymorphism and analysis for the detection of single base substitutions. Genomics. 16:1993;325-332.
19. Stoflet E. S., Koeberl D. D., Sarkar G., Sommer S. S. Genomic amplification with transcript sequencing. Science. 239:1988;491-494.
20. Underhill P. A., Jin L., Lin A. A., Mehdi S. Q., Jenkins T., Vollrath D., Davis R. W., Cavalli-Sforza L. L., Oefner P. J. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high performance liquid chromatography (DHPLC). Genome Res. 7:1997;996-1005.
21. White M. B., Carvalho M., Derse D., O'Brien S. J., Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics. 12:1992;301-306.
22. Yoshitake S., Schach B. G., Foster D. C., Davie E. W., Kurachi K. Nucleotide-sequence of the gene for human factor-IX (antihemophilic factor B). Biochemistry. 24:1985;3736-3750.
23. Youil R., Kemper B. W., Cotton R. G. H. Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc. Natl. Acad. Sci. USA. 92:1995;87-91.