The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

Genomics

Volumn 16, Issue 2, 1993, Pages 325-332

  Sheffield, Val C ^a   Beck, John S ^a   Kwitek, Anne E ^a   Sandstrom, Dirk W ^a   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; PROTEIN P53; RHODOPSIN;

ARTICLE; GENE MUTATION; GENETIC POLYMORPHISM; GLOBIN GENE; MOUSE; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

ANIMAL; COMPARATIVE STUDY; DNA MUTATIONAL ANALYSIS; DNA, SINGLE-STRANDED; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENES, P53; GLOBINS; HUMAN; MICE; MUTATION; NUCLEIC ACID CONFORMATION; POLYMERASE CHAIN REACTION; POLYMORPHISM (GENETICS); PROMOTER REGIONS (GENETICS); RHODOPSIN; SENSITIVITY AND SPECIFICITY; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027193630     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1006/geno.1993.1193     Document Type: Article

References (22)

1. Cotton, R. G. H., Rodriquez, N. R., and Campbell, R. D. (1988). 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: 11(22) 4397-401.
2. Demers, D. B., Odelberg, S. J., and Fisher, L. M. (1990). Identification of a factor IX point mutation using SSCP analysis and direct se-quencing. Nucleic Acids Res. 18: 5575.
3. Fischer, S. G., and Lerman, L. S. (1980). Separation of random frag-ments of DNA according to properties of their sequences. Proc-Natl. Acad. Sci. USA 77: 4420-4424.
4. Hayashi, K. (1992). PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl. 1: 34-38.
5. Keen, J., Lester, D., Inglehearn, C., Curtis, A., and Bhattacharya, S.(1991) Rapid detection of single base mismatches as heterodu-plexes on hydrolink gels. Trends Genet. 7: 5.
6. Mashiyama, S., Sekiya, T., and Hayashi, K. (1990). Screening of multiple DNA samples for detection of sequences changes. Technique 2: 304-306.
7. Michaud, J., Brody, L. C., Steel, G., Fontaine, G., Martin, L. S., Valle, D., and Mitchell, G., Strand-separating conformational polymer phism analysis: Efficacy of detection of point mutations in the human ornithine 6-aminotransferase gene. Genomics 13: 389-394.
8. Murakami, Y., Katahira, M., Makino, R., Hayachi, K., Hirohashi, S., and Sekiya, T. (1991). Inactivation of the retinoblastoma gene in a human lung carcinoma cell line detected by single-strand conformation polymorphism analysis of the polymerase chain reaction product of cDNA. Oncogene 6: 37-42.
9. Myers, R. M., Larin, Z., and Maniatis, T. (1985a). Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA: DNA duplexes. Science 230(4731): 1242-1246.
10. Myers, R. M., Lerman, L. S., and Maniatis, T. (1985b). A general method for saturation mutagenesis of cloned DNA fragments. Science 229: 242-247.
11. Myers, R. M., Maniatis, T., and Lerman, L. S. (1987). Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol. 155: 501-527.
12. Orita, M., Iwahara, H., Kanazawa, H., Hayashi, K., and Sekiya, T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86: 2766-2770.
13. Orita, M., Sekiya, T., and Hayashi, K. (1990). DNA sequence polymorphisms in Alu repeats. Genomics 8: 271-278.
14. Orita, M. Y., Suzuki, Y., Sekiya, T., and Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879.
15. Riess, O., Noerremoelle, A, Collins, C., Mah, D., Weber, B., and Hayden, M. R. (1992). Exclusion of DNA changes in the3-subunit of the c-GMP phophodiesterase gene as the cause for Huntington's disease. Nature Genet. 1: 104-113.
16. Sarkar, G., Yoon, H.-S., and Sommer, S. S. (1992). Screening for mutations by RNA single-strand conformation polymorphisms (rSSCP): Comparison with DNA-SSCP. Nucleic Acids Res. 20: 871-875.
17. Sheffield, V. C., Beck, J. S., Lidral, A., Nichols, B., Cousineau, A., and Stone, E. M. (1992). Detection of polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am. J. Hum. Genet. 50: 567-575.
18. Sheffield, V. C., Cox, D. R., and Myers, R. M. (1989). Attachment of a 40-base-pair G + C rich sequence to genomic DNA fragments by the polymerase chain reaction results in improved detection of singlebase changes. Proc. Natl. Acad. Sci. USA 86: 232-236.
19. Sheffield, V. C., Fishman, G. A., Beck, J. S., Kimura, A. E., and Stone, M (1991). Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am. J. Hum. Genet. 49: 699-706.
20. Suzuki, Y., Orita, M., Shiraishi, M., Hayashi, K., and Sekiya, T. (1990) Detection of ras gene mutations in human lung cancers by single-strand conformation polymorphism analysis of polymerase chain reaction products. Oncogene 5: 1037-1043.
21. White, M. B., Carvalho, M., Derse, D., O'Brien, S. J., and Dean, M. (1992) Detecting single base substitutions as heteroduplex polymorphisms. Genomics 12: 301-306.
22. Zhou, Y., Zhang, X., and Ebright, R. H. (1991). Random mutagenesis of gene-sized DNA molecules by use of PCR with Taq DNA polymerase. Nucleic Acid Res. 19(21): 6052.