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A Highly Sensitive, Fast, and Economical Technique for Mutation Analysis in Hereditary Breast and Ovarian Cancers by Norbert Arnold; Eva Gross; Ulrike Schwarz-Boeger; Jacobus Pfisterer; Walter Jonat; Marion Kiechle is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Communicated by Albert de la Chapelle Mutation analysis of complex genes without hotspots for sequence variations, such as BRCA1, is time-consuming and expensive. Of all currently available methods, direct sequencing has the highest sensitivity, but also the highest costs. Other techniques, such as SSCP, DGGE, and PTT, are more economical but, depending on the experience of the investigator, have at best a sensitivity of 90%. We investigated in a prospective study the feasibility and accuracy of the DHPLC technique. We present the application of the DHPLC protocol for BRCA1 mutation detection on a HPLC device from Bio-Tek Kontron Instruments (Neufahrn, Germany). DNA from 46 women with hereditary breast and ovarian cancer undergoing genetic testing for BRCA1 mutations were tested. Of 1,518 amplicons analyzed by DHPLC, corresponding to 33 fragments spanning the entire BRCA1 gene, 626 were also directly sequenced. The comparison demonstrated that DHPLC detected all alterations found by direct sequencing. No false-positive signals were seen in cases of homozygous sequences. Further, no false-negative results were ever obtained in women with mutations or polymorphisms, or both. In ca

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Author

Norbert Arnold; Eva Gross; Ulrike Schwarz-Boeger; Jacobus Pfisterer; Walter Jonat; Marion Kiechle

Publisher

Hindawi Limited

Published

1999

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)