Exon deletions and duplications in BRCA1 detected by semiquantitative PCR

rearrangements have recently been identified in the BRCA1 gene. Inclusion of a method for identifying such rearrangements should now be a prerequisite for providing a comprehensive mutation detection strategy. We have developed a semiquantitative PCR-based fluorescent assay for the detection of prev...

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Veröffentlicht in:	Genetic testing 2000, Vol.4 (1), p.49-54
Hauptverfasser:	Robinson, M D, Chu, C E, Turner, G, Bishop, D T, Taylor, G R
Format:	Artikel
Sprache:	eng
Schlagworte:	BRCA1 Protein - genetics Breast Neoplasms - epidemiology Breast Neoplasms - genetics DNA - analysis DNA - genetics DNA Mutational Analysis - methods Evaluation Studies as Topic Exons - genetics Female Fluorescence Founder Effect Gene Dosage Genetic Testing - methods Humans Incidence Ovarian Neoplasms - epidemiology Ovarian Neoplasms - genetics Polymerase Chain Reaction - methods Sensitivity and Specificity Sequence Deletion - genetics United Kingdom - epidemiology
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creator	Robinson, M D Chu, C E Turner, G Bishop, D T Taylor, G R
description	rearrangements have recently been identified in the BRCA1 gene. Inclusion of a method for identifying such rearrangements should now be a prerequisite for providing a comprehensive mutation detection strategy. We have developed a semiquantitative PCR-based fluorescent assay for the detection of previously identified deletions. This method avoids the need for long PCR or Southern blotting and is suitable for large-scale epidemiological studies. The assay was used to screen 44 high-risk families within the U.K. Yorkshire Health Region. No deletions were detected, but five cases (11%) with an apparent duplication of exon 13 in BRCA1 were identified. The presence of this mutation was confirmed by long PCR. Further developments include extending the assay to include all exons of BRCA1.
doi_str_mv	10.1089/109065700316471
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Inclusion of a method for identifying such rearrangements should now be a prerequisite for providing a comprehensive mutation detection strategy. We have developed a semiquantitative PCR-based fluorescent assay for the detection of previously identified deletions. This method avoids the need for long PCR or Southern blotting and is suitable for large-scale epidemiological studies. The assay was used to screen 44 high-risk families within the U.K. Yorkshire Health Region. No deletions were detected, but five cases (11%) with an apparent duplication of exon 13 in BRCA1 were identified. The presence of this mutation was confirmed by long PCR. 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subjects	BRCA1 Protein - genetics Breast Neoplasms - epidemiology Breast Neoplasms - genetics DNA - analysis DNA - genetics DNA Mutational Analysis - methods Evaluation Studies as Topic Exons - genetics Female Fluorescence Founder Effect Gene Dosage Genetic Testing - methods Humans Incidence Ovarian Neoplasms - epidemiology Ovarian Neoplasms - genetics Polymerase Chain Reaction - methods Sensitivity and Specificity Sequence Deletion - genetics United Kingdom - epidemiology
title	Exon deletions and duplications in BRCA1 detected by semiquantitative PCR
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