Mutation detection and typing of polymorphic loci through double-strand conformation analysis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-02

AUTHORS

J. Rafael Argüello, Ann-Margaret Little, Andrea L. Pay, David Gallardo, Isabel Rojas, Steven G.E. Marsh, John M. Goldman, J. Alejandro Madrigal

ABSTRACT

Variations, such as nucleotide substitutions, deletions and insertions, within genes can affect the function of the gene product and in some cases be deleterious. Screening for known allelic variation is important for determining disease and gene associations. Techniques which target specific mutations such as restriction enzyme polymorphism and oligonucleotide probe or PCR primer reactivity are useful for the detection of specific mutations, but these techniques are not generally effective for the identification of new mutations. Approaches for measuring changes in DNA conformation have been developed, based on the principle that DNA fragments which differ in nucleotide composition exhibit different mobilities after separation by polyacrylamide gel electrophoresis (PAGE). Here we describe a conformation-based mutation detection system, double-strand conformation analysis (DSCA), which provides a simple means to detect genetic variants and to type complex polymorphic loci. We demonstrate the application of DSCA to detect genetic polymorphisms such as a single-nucleotide difference within DNA fragments of up to 979 base pairs in length. We present the application of DSCA in detecting four different mutations in the cystic fibrosis gene (CFTR) and 131 different alleles encoded by HLA class I genes. More... »

PAGES

192-194

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0298-192

DOI

http://dx.doi.org/10.1038/ng0298-192

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031176936

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9462755


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