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Apparent human BRCAI knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing

Kuschel, B; Gayther, SA; Easton, DF; Ponder, BAJ; Pharoah, PDP; (2001) Apparent human BRCAI knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing. GENE CHROMOSOME CANC , 31 (1) 96 - 98.

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Abstract

We report an apparent BRCA I homozygous knockout that, on further analysis. was found to be an artefact of the polymerase chain reaction. This finding has two important implications. First, it challenges results of a previous study that reported a homozygous knockout associated with the same BRCA I mutation. Second, our findings suggest that mispriming caused by mismatched primers at the site of single-nucleotide polymorphisms, leading to preferential amplification of one allele, may represent a significant proportion of instances of mutation-detection insensitivity. This may have major implications for the sensitivity of all polymerase chain reaction-based mutation-detection methods in clinical genetic testing laboratories. (C) 2001 Wiley-Liss, Inc.

Type: Article
Title: Apparent human BRCAI knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing
Keywords: OVARIAN-CANCER FAMILIES, MUTATIONS, BREAST
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health
URI: http://discovery.ucl.ac.uk/id/eprint/175128
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