Detection of mutations in genes by specific lna primers

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 19/00 (2006.01) C12N 15/10 (2006.01)

Patent

CA 2368169

The present invention relates to a method of detecting variant nucleic acid whose nucleotide sequence differs from one another at a single (or more) position(s). The method uses a set of chimeric oligonucleotides containing DNA monomers and monomers of a novel class of DNA analogues, locked nucleic acid (LNA). LNA oligomers obey the Watson-Crick base-pairing rules and form duplexes that are significantly more stable than similar duplexes formed by DNA. The "allele-specific" LNA-containing oligonucleotides wherein the LNA nucleotide(s) are found at the 3' position can be extended by means of enzymes only where the nucleotide(s), which is/are terminal in direction of extension, is/are complementary to the corresponding nucleotides of the nucleic acid (of the one allele) to be detected. Thus discrimination between alleles without subsequent differential hybridization with labelled oligonucleotides is possible. The invention further relates to reagents for performing the methods as well as applications of the method.

La présente invention concerne une méthode de détection d'acide nucléique variant dont la séquence nucléotidique diffère d'une autre au niveau d'une seule position ou de plusieurs positions. La méthode utilise un ensemble d'oligonucléotides chimères contenant des monomères d'ADN ainsi que des monomères d'une nouvelle classe d'analogues d'ADN, l'acide nucléique bloqué (LNA). Les oligomères de LNA obéissent aux règles d'appariement des bases de Watson-Crick et ils forment des duplex lesquels sont significativement plus stables que des duplex similaires formés par l'ADN. Les oligonucléotides contenant LNA dans lesquels le ou les nucléotides de LNA sont rencontrés en position 3' peuvent être prolongés au moyen d'enzymes uniquement là où le ou les nucléotides, lequel/lesquels est/sont en position terminale dans le sens de l'extension, est/sont complémentaire(s) des nucléotides correspondants de l'acide nucléique (du seul allèle) à détecter. Ainsi, la discrimination entre les allèles sans hybridation différentielle ultérieure avec des oligonucléotides marqués est possible. L'invention concerne également des réactifs de mise en application des méthodes ainsi que des applications de la méthode.

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