AustralieFrV1, Main, Exploration, bibRecord, 007C30

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

Identifieur interne : 007C30 ( Main/Exploration ); précédent : 007C29; suivant : 007C31

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

Auteurs : Tú Nguyen-Dumont [France] ; Florence Le Calvez-Kelm [France] ; Nathalie Forey [France] ; Sandrine Mckay-Chopin [France] ; Sonia Garritano [France] ; Lydie Gioia-Patricola [France] ; Deepika De Silva [États-Unis] ; Ron Weigel [États-Unis] ; Suleeporn Sangrajrang [Thaïlande] ; Fabienne Lesueur [France] ; Sean V. Tavtigian [France]

Source :

Human mutation [ 1059-7794 ] ; 2009.

RBID : PMC:3478947

Abstract

Mutation scanning using high-resolution melting curve analysis (HR-melt) is an effective and sensitive method to detect sequence variations. However, the presence of a common SNP within a mutation scanning amplicon may considerably complicate the interpretation of results and increase the number of samples flagged for sequencing by interfering with the clustering of samples according to melting profiles. A protocol describing simultaneous high-resolution gene scanning and genotyping has been reported. Here, we show that it can improve the sensitivity and the efficiency of large-scale case/control mutation screening. Two exons of ATM, both containing a SNP interfering with standard mutation scanning, were selected for screening of 1356 subjects from an international breast cancer genetics study. Asymmetric PCR was performed in the presence of a SNP-specific unlabeled probe. Stratification of the samples according to their probe-target melting was aided by customized HR-melt software. This approach improved identification of rare known and unknown variants, while dramatically reducing sequencing effort. It even allowed genotyping of tandem SNPs using a single probe. Hence, HR-melt is a rapid, efficient and cost-effective tool that can be used for high-throughput mutation screening for research, as well as for molecular diagnostic and clinical purposes.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3478947

DOI: 10.1002/humu.20949
PubMed: 19347964
PubMed Central: 3478947

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p id="P1">Mutation scanning using high-resolution melting curve analysis (HR-melt) is an effective and sensitive method to detect sequence variations. However, the presence of a common SNP within a mutation scanning amplicon may considerably complicate the interpretation of results and increase the number of samples flagged for sequencing by interfering with the clustering of samples according to melting profiles. A protocol describing simultaneous high-resolution gene scanning and genotyping has been reported. Here, we show that it can improve the sensitivity and the efficiency of large-scale case/control mutation screening. Two exons of <italic>ATM</italic>
, both containing a SNP interfering with standard mutation scanning, were selected for screening of 1356 subjects from an international breast cancer genetics study. Asymmetric PCR was performed in the presence of a SNP-specific unlabeled probe. Stratification of the samples according to their probe-target melting was aided by customized HR-melt software. This approach improved identification of rare known and unknown variants, while dramatically reducing sequencing effort. It even allowed genotyping of tandem SNPs using a single probe. Hence, HR-melt is a rapid, efficient and cost-effective tool that can be used for high-throughput mutation screening for research, as well as for molecular diagnostic and clinical purposes.</p>
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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

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Abstract

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	Serveur d'exploration sur les relations entre la France et l'Australie
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