Abstract
Automated fluorescent sequencing of polymerase chain reaction (PCR) products is now widely used in molecular diagnostics. It is most commonly used to characterize mutations detected in an initial screen using a less sensitive, indirect method, rather than a mutation scanning technique in its own right. This is largely because analysis software associated with automated DNA sequencing systems has been designed primarily to determine sequence, and not to determine the location and nature of heterozygous differences between sequences.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Mattocks, C., Tarpey, P., Bobrow, M., and Whittaker, J. (2000) Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterisation of mutations in DNA. Hum. Mutat. 16, 437–443.
Sanger, F., Nicklen, S., and Coulson, A. R. (1977) DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA 74, 5463–5467.
Hawkins, T. L., Du, Z., Halloran, N. D., and Wilson, R. K. (1992) Fluorescence chemistries for automated primer-directed DNA sequencing. Electrophoresis 13, 552–559
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2004 Humana Press Inc.
About this protocol
Cite this protocol
Mattocks, C., Tarpey, P., Whittaker, J. (2004). Comparative Sequence Analysis. In: Elles, R., Mountford, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine™, vol 92. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-432-8:115
Download citation
DOI: https://doi.org/10.1385/1-59259-432-8:115
Publisher Name: Humana Press, Totowa, NJ
Print ISBN: 978-0-89603-932-2
Online ISBN: 978-1-59259-432-0
eBook Packages: Springer Protocols