Clinical Chemistry AACC Online Job Center
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 43: 427-435, 1997;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (43)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Humphries, S. E.
Right arrow Articles by Day, I. N. M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Humphries, S. E.
Right arrow Articles by Day, I. N. M.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Evidence Based Laboratory Medicine and Test Utilization
Right arrow Lipids, Lipoproteins, and Cardiovascular Risk Factors
(Clinical Chemistry. 1997;43:427-435.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia

Steve E. Humphriesa, Vilmundur Gudnason, Ros Whittall, Ian N. M. Day and for the International Federation of Clinical Chemistry Scientific Divison: Committee on Molecular Biology Techniques

Centre for Genetics of Cardiovascular Disorders, University College of London Medical School, Department of Medicine, The Rayne Institute, 5 University St., London WC1E 6JJ, UK.
a Author for correspondence. Fax + 44 171 209 6212, e-mail s.humphries{at}medicine.ucl.ac.uk

The identification of the specific mutation causing an inherited disease in a patient is the framework for the development of a rationale for therapy and of DNA-based tests for screening relatives. We present here a review of the single-strand conformational polymorphism (SSCP) method, which allows DNA fragments that have been amplified with specific primers and PCR to be scanned rapidly for any sequence variation. The general principles of the method are described, as are the major factors that must be considered in developing an optimal SSCP strategy, namely the length of the PCR fragment and the temperature of the gel run. Options for sample denaturing gel characteristics and detection of DNA fragments are discussed. In addition, several modifications are presented that have been developed for high-throughput mutational analysis. The application of these techniques to screen for mutations in the LDL receptor gene in patients with familial hypercholesterolemia are described.


Key Words: indexing terms: microtiter array diagonal gel electrophoresis • polymerase chain reaction • LDL receptor gene • inherited disease




The following articles in journals at HighWire Press have cited this article:


Home page
 Nucleic Acids ResHome page
T. Ellis, D. A. Evans, C. R. H. Martin, and J. A. Hartley
A 96-well DNase I footprinting screen for drug-DNA interactions
Nucleic Acids Res., June 22, 2007; (2007) gkm467v1.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Microbiol.Home page
M. Kumar and P. K. Shukla
Use of PCR Targeting of Internal Transcribed Spacer Regions and Single-Stranded Conformation Polymorphism Analysis of Sequence Variation in Different Regions of rRNA Genes in Fungi for Rapid Diagnosis of Mycotic Keratitis
J. Clin. Microbiol., February 1, 2005; 43(2): 662 - 668.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Pathol.Home page
A Gupta and S Agarwal
Efficiency and cost effectiveness: PAGE-SSCP versus MDE and Phast gels for the identification of unknown {beta} thalassaemia mutations
Mol. Pathol., August 1, 2003; 56(4): 237 - 239.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
B. G. Henderson, P. R. Wenham, J. P. Ashby, and G. Blundell
Detecting familial defective apolipoprotein B-100: three molecular scanning methods compared
Clin. Chem., September 1, 1997; 43(9): 1630 - 1634.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1997 by the American Association for Clinical Chemistry.