Diasorin S.p.a.

Biotrin International Limited

Giulia Amicarelli

Daniel Adlerstein

Giulia Minnucci

Eriet Shehi

Erlet Shehi

The present invention refers to a method for detecting a point mutations of a nucleotide sequence by an improvement of the LAMP (loop amplification mediated polymerization) amplification method, as well as to a set of primers and kit therefor. As a non limitative embodiment, the invention refers to the G1849T mutation of the JAK2 gene.

Composition, kits and methods for the detection of point mutations and SNPs

The invention provides an amplification system for the simultaneous detection of mutant alleles, and identification of the specific mutated sequence. A sample is enriched and simultaneously genotyped by the presence of peptide nucleic acids (PNAs) probes in an homogeneous single tube amplification reaction, by detecting the cleavage of a fluorophore quencher from the 5'-end of PCR products and, concurrently, selecting DNA that includes specific mutations relative to wild type, by employing a thermostable endonuclease that will only cleave an amplicon formed on a mutation bearing template strand. Oligonucleotides and kits for conducting the amplification system are also provided.

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Parabiago, Italy

Giulia Amicarelli