Enhanced detection of mutations in BRCA1 exon 11 using restriction endonuclease fingerprinting-single-strand conformation polymorphism View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-11-16

AUTHORS

Astanand Jugessur, Petter Frost, Tone Ikdahl Andersen, Solrun Steine, Annika Lindblom, Anne-Lise Børresen-Dale, Hans Geir Eiken

ABSTRACT

A novel approach to mutation screening in the large exon 11 (comprising 3427 bp) of the human BRCA1 gene is presented. Restriction endonuclease fingerprinting single-strand conformation polymorphism (REF-SSCP) is based on repeated detection of DNA sequence variants in different restriction endonuclease fragments, and we evaluated the method using blood samples from 25 Norwegian patients with hereditary breast/ovarian cancer. We compared REF-SSCP to constant denaturant gel electrophoresis (CDGE) and to the protein truncation test (PTT). REF-SSCP detected 12 different DNA variants. Four of these were not detected by CDGE, and only one variant detected by CDGE was missed by REF-SSCP. PTT detected 4 of these 13 variants. REF-SSCP was subsequently applied to a second patient series (Swedish, n=20). A total of 14 different DNA variants were detected by REF-SSCP, 6 of which were truncating mutations (PTT detected only 4). Nonsense and frameshift mutations that are putative breast/ovarian cancer mutations, were detected in 7 of the 25 Norwegian and 9 of the 20 Swedish patients. More... »

PAGES

580-587

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s001090000147

DOI

http://dx.doi.org/10.1007/s001090000147

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049475972

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11199332


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