High-Throughput Mutation Detection Method to Scan BRCA1 and BRCA2 Based on Heteroduplex Analysis by Capillary Array Electrophoresis
Open Access
- 1 February 2004
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 50 (2) , 313-320
- https://doi.org/10.1373/clinchem.2003.023614
Abstract
Background: Scanning for mutations in BRCA1 and BRCA2 in a large number of samples is hampered by the large sizes of these genes and the scattering of mutations throughout their coding sequences. Automated capillary electrophoresis has been shown to be a powerful system to detect mutations by either single-strand conformation polymorphism or heteroduplex analysis (HA).Keywords
This publication has 25 references indexed in Scilit:
- Breast and Ovarian CancerNew England Journal of Medicine, 2003
- Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): identificación de nueve variantes de efecto desconocido no descritasMedicina Clinica, 2002
- Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutationsNucleic Acids Research, 1998
- Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocolsEuropean Journal of Human Genetics, 1998
- BRCA2 germline mutations in male breast cancer cases and breast cancer familiesNature Genetics, 1996
- The complete BRCA2 gene and mutations in chromosome 13q-linked kindredsNature Genetics, 1996
- A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1Science, 1994
- Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.Proceedings of the National Academy of Sciences, 1993
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.Proceedings of the National Academy of Sciences, 1983