Abstract
The large size of many human genes, in combination with the frequent occurrence of many different mutations over the entire gene, severely limits direct diagnosis. Since gene diagnosis by sequencing on a large scale is not yet cost-effective, other methods such as the analysis of single-strand conformation polymorphisms (SSCP), heteroduplex analysis, and analysis by denaturing gradient gel electrophoresis (DGGE) are presently being employed (for a review, see Cotton, 1993; see also elsewhere in this volume). While these systems are very useful, they are difficult to adapt for large-scale analyses and most of them are restricted in their detection rates. Moreover, all currently available methods lack uniformity and standardization.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Abrams, E. S., Murdaugh, S. E., and Lerman, L. S. (1990). Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 7:463–475.
Beggs, A. H., Koenig, M., Boyce, F. M., and Kunkel, L. M. (1990). Detection of 98% DMD/BMD gene deletions by PCR. Hum. Genet 86:45–48.
Blanquet, V., Turleau, C., Gross-Morand, M.-S., Sénamaud-Beaufort, C., Doz, R., and Besmond, C. (1995). Spectrum of germline mutations in the RBI gene: A study of 232 patients with hereditary and non hereditary retinoblastoma. Hum. Mol Genet. 2:975–979.
Chamberlain, J. S., Gibbs, R. A., Ranier, J. E., Nguyen, P. N., and Caskey, C. T. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16:11141–11156.
Costes, B., Fanen, P., Goossens, M., and Ghanem, N. (1993). A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum. Mutat. 2:185–191.
Cotton, R. G. H. (1993). Current methods of mutation detection. Mutat. Res. 285:125–144.
Dianzani, I., Camaschella, C., Ponzone, A., and Cotton, R. G. H. (1993). Dilemmas and progress in mutation detection. Trends Genet. 9:403–405.
Edwards, M. C., and Gibbs, R.A. (1994). Multiplex PCR:Advantages, development and applications. PCR Methods Appl. 3:S65–S75.
Fischer, S. G., and Lerman, L. S. (1979a). Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis Cell 16:191–200.
Fischer, S. G., and Lerman, L.S. (1979b). Two-dimensional electrophoretic separation of restriction enzyme fragments of DNA. Methods Enzymol. 68:183–191.
Foord, O. S., and Rose, E.A. (1994). Long-distance PCR. PCR Methods Appl. 3:S149–S161.
Guldberg, P., Henriksen, K. F., and Guttler, F. (1993). Molecular analysis of phenylketonuria in Denmark:99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 17:141–146.
Lerman, L. S., and Silverstein, K. (1987). Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol. 155:482–501.
Li, D., and Vijg, J. (1996). Multiplex co-amplification of 24 retinoblastoma gene exons after pre-amplification by long-distance PCR. Nucleic Acids Res., 24:538–539.
Moyret, C., Theillet, C., Puig, P. L., Moles, J-R, Thomas, G., and Hamelin, R. (1994). Relative efficiency of denaturing gradient gel electrophoresis and single strand conformation polymorphism in the detection of mutations in exons 5 to 8 of the p53 gene. Oncogene 9:1739–1743.
Mullaart, E., de Vos, G. J., te Meerman, G. J., Uitterlinden, A. G., and Vijg, J. (1993). Parallel genome analysis by two-dimensional DNA typing. Nature 365:469–471.
Myers, R. M., Fischer, S. G., Lerman, L. S., and Maniatis, T. (1985). Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res. 13:3131–3145.
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.
Sheffield, V. C., Cox, D. R., Lerman, L. S., and Myers, R. M. (1989). Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. Natl Acad. Sci. USA 86:232–236.
Sheffield, V. C., Beck, J. S., Kwitek, A. E., Sandstrom, D.W., and Stone, E.M. (1993). The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325–332.
Sidman, C. L., and Shaffer, D.J. (1994). Large-scale genomic comparison using two-dimensional DNA gels. Genomics 23:15–22.
Uitterlinden, A. G. and Vijg, J. (1994). Two-Dimensional DNA Typing: A Parallel Approach to Genome Analysis. Ellis Horwood, Chichester.
Uitterlinden, A. G., Slagboom, P. E., Knook, D. L., and Vijg, J. (1989). Two-dimensional DNA fingerprinting of human individuals. Proc. Natl Acad. Sci. USA 86:2742–2746.
van Orsouw, N., Li, D., van der Vlies, P., Scheffer, H., Eng, C., Buys, C. H. C. M., Li, F. P., and Vijg, J. (1996). Mutational Scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: Application to the RBI gene. Hum. Mol. Genet., in press.
Vijg, J. (1995a). Detecting individual genetic variation. Bio/Technology 13:137–139.
Vijg, J. (1995b). Two-dimensional DNA typing: A cost-effective way of analyzing complex mixtures of DNA fragments for sequence variations. Mol. Biotechnol. 4:275–295.
Vijg, J., Wu, Y, Uitterlinden, A. G., and Mullaart, E. (1994). Two-dimensional DNA electrophoresis in mutation detection. Mutat. Res. 308:205–214.
Wu, Y, Hofstra, R., Scheffer, H., Uitterlinden, A. G., Mullaart, E., Buys, C. H. C. M., and Vijg, J. (1996). Comprehensive and accurate mutation scanning of the CFTR-gene by two-dimensional DNA electrophoresis. Hum. Mutat., in press.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1996 Springer Science+Business Media New York
About this chapter
Cite this chapter
Li, D., van Orsouw, N., Huang, C., Vijg, J. (1996). Two-Dimensional Gene Scanning. In: Pfeifer, G.P. (eds) Technologies for Detection of DNA Damage and Mutations. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-0301-3_22
Download citation
DOI: https://doi.org/10.1007/978-1-4899-0301-3_22
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4899-0303-7
Online ISBN: 978-1-4899-0301-3
eBook Packages: Springer Book Archive