发明名称 PARK2 GENE AND DIAGNOSTIC TECHNIQUE FOR ITS MUTATIONS
摘要 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 50C for 2 minutes, denatured at 95C for 15 minutes, denatured at 95C for 15 seconds, incubated at 61C 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-(öCt), where öCt = [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
申请公布号 RU2428478(C1) 申请公布日期 2011.09.10
申请号 RU20100122010 申请日期 2010.05.31
申请人 UCHREZHDENIE ROSSIJSKOJ AKADEMII NAUK INSTITUT MOLEKULJARNOJ GENETIKI RAN (IMG RAN) 发明人 SHADRINA MARIJA IGOREVNA;SEMENOVA ELENA VLADIMIROVNA;ILLARIOSHKIN SERGEJ NIKOLAEVICH;SLOMINSKIJ PETR ANDREEVICH;LIMBORSKAJA SVETLANA ANDREEVNA
分类号 C12N15/00 主分类号 C12N15/00
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