Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA

Citation
C. Mattocks et al., Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA, HUM MUTAT, 16(5), 2000, pp. 437-443
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN MUTATION
ISSN journal
10597794 → ACNP
Volume
16
Issue
5
Year of publication
2000
Pages
437 - 443
Database
ISI
SICI code
1059-7794(2000)16:5<437:CSA(AN>2.0.ZU;2-E
Abstract
Direct sequencing analysis is largely used to confirm and characterize muta tions previously detected by more rapid tests. We have developed a method-C omparative Sequence Analysis (CSA) - that simplifies the analysis of sequen cing data facilitating its use as a first screen for mutation detection. Se quence data were split into their component electrophoretograms and the use of a size standard enabled equivalent traces from different individuals to be overlaid. This allowed simple and rapid visual analysis of the results, Using this technique in a blind study, we tested 576 samples for mutations in the Von Hippel-Lindau tumor suppresser gene, VHL. We were able to ident ify and characterize all 78 known mutations present within the sample set ( 100% sensitivity and specificity). Hum Mutat 16:437-443, 2000. (C) 2000 Wil ey-Liss, Inc.