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

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 an SNP interfering with standard mutation scanning, were selected for screening of 1,356 subjects from an international breast cancer genetics

SUBMITTER: Nguyen-Dumont T 

PROVIDER: S-EPMC3478947 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature