Compositions and methods for diagnosis of mutation in the...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01) G01N 33/574 (2006.01)

Patent

CA 2240831

The instant invention relates to methods and products for the diagnosis of mutations in the von Hippel-Lindau tumor suppressor gene. More specifically, the products are DNA oligonucleotides for use in amplifying and sequencing genomic DNA and kits including these oligonucleotides. The method of the invention relates to a hierarchical system for cost-effective diagnosis of von Hippel-Lindau tumor suppressor disease-associated mutations.

Cette invention a trait à des méthodes et des produits permettant d'établir un diagnostic relatif à des mutations survenant dans le gène suppresseur de tumeur de von Hippel-Lindau. Plus précisément, les produits consistent en des oligonucléotides d'ADN utilisables pour l'amplification et le séquençage d'ADN génomique et des kits comportant ces oligonucléotides. La méthode de l'invention porte sur un système hiérarchique permettant un diagnostic, dans de bonne conditions d'économie et d'efficacité, de mutations du gène suppresseur de tumeur associées à la maladie de von Hippel-Lindau

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