METHOD, SEQUENCES, COMPOSITIONS AND KIT FOR DETECTION OF MUTATIONEN IN THE PROMOTER OF THE GENE HTERT

The present invention refers to a method for the detection of the c.-124 C>T and c.-146 C>T mutations in Htert gene promoter. The referred method uses a reaction composition that comprises primers for amplification and probes for genotyping. Another aspect of this invention refers the primers and probes used in performing the aforementioned method with sequences, identified as SEQ ID nr.1 to SEQ ID nr.6, that display high specificity for these mutations, as well as compositions that contain them. The present invention further refers to a kit comprising the above mentioned compositions for detecting mutations c.-124 C>T and c.-146 C>T mutations in Htert gene promoter by conducting the present method invention. The method, gene sequences, compositions and kit of the present invention can be advantageously used for detecting trace amounts of c.-124 C>T and c.-146 C>T mutations, present in biological samples due to its high sensitivity and specificity for such mutations. The present invention can therefore be applied in early detection, identification, detection of recurrence or prediction and monitoring of diseases associated with those mutations, such as bladder carcinomas, thyroid carcinomas, squamous cell carcinoma, basal cell carcinomas, skin cancer, central nervous system cancers and hepatocellular carcinoma, among others and eventually provide the basis for appropriate treatment setting. Thus, the present invention falls within the technical field of medicine, pharmaceutics, molecular biology, biochemistry, and human related genetics.