PARK2 GENE AND DIAGNOSTIC TECHNIQUE FOR ITS MUTATIONS Russian patent published in 2011 - IPC C12N15/00 

FIELD: medicine.

SUBSTANCE: what is described is a diagnostic technique for deletions and duplications of PARK2 gene exons involving simultaneous amplification of one of park gene exons and a tracking gene in test samples of human genome DNA by real-time polymerase chain reaction with using exon-flanking outer primers and located between primers of fluorescent-marked hybridisation probes where polymerase chain reaction is four-staged in the following conditions: a reaction mixture is heated at temperature 50°C for 2 minutes, denatured at 95°C for 15 minutes, denatured at 95°C for 15 seconds, incubated at 61°C for 45 seconds; 35 cycles are repeated consistently with the two last stages; the absence of deletions, the presence of heterozygotic or homozygous deletions or the presence of duplications of exon is stated by the coefficient R which is calculated by formula R=2^-(ΔCt), where ΔCt = [Ct tracking gene (reference DNA) - Ct park (reference DNA)] - [Ct tracking gene (patient's DNA sample)-Ct park PARK2 (patient's DNA sample)].

EFFECT: invention allows detecting mutations in PARK2 gene.

14 cl, 5 tbl, 2 ex