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Titolo:
Apparent human BRCAI knockout caused by mispriming during polymerase chainreaction: Implications for genetic testing
Autore:
Kuschel, B; Gayther, SA; Easton, DF; Ponder, BAJ; Pharoah, PDP;
Indirizzi:
CRC, Human Canc Genet Res Grp, Dept Oncol, Strangeways Res Labs, CambridgeCB1 8RN, England CRC Cambridge England CB1 8RN geways Res Labs, CambridgeCB1 8RN, England CRC, Genet Epidemiol Grp, Strangeways Res Labs, Cambridge, England CRC Cambridge England iol Grp, Strangeways Res Labs, Cambridge, England
Titolo Testata:
GENES CHROMOSOMES & CANCER
fascicolo: 1, volume: 31, anno: 2001,
pagine: 96 - 98
SICI:
1045-2257(200105)31:1<96:AHBKCB>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
OVARIAN-CANCER FAMILIES; MUTATIONS; BREAST;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
9
Recensione:
Indirizzi per estratti:
Indirizzo: Pharoah, PDP CRC, Human Canc Genet Res Grp, Dept Oncol, Strangeways Res Labs, Worts Causeway, Cambridge CB1 8RN, England CRC Worts Causeway Cambridge England CB1 8RN B1 8RN, England
Citazione:
B. Kuschel et al., "Apparent human BRCAI knockout caused by mispriming during polymerase chainreaction: Implications for genetic testing", GENE CHROM, 31(1), 2001, pp. 96-98

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 Imutation. 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 17:01:11