"1"^^ . "1"^^ . . . "V\u00FDstupy projektu p\u0159edstavuj\u00ED zaveden\u00ED molekul\u00E1rn\u011B genetick\u00E9 diagnostiky DM1 a DM2 v \u010CR."@cs . . "0"^^ . . . . "http://www.isvav.cz/projectDetail.do?rowId=NR8052"^^ . . . "The proposed project aims to introduce FISH using fluorescently labeled oligonucleotide probes for detection the expanded repetitive sequences CTG and CCTG in the DMPK gene and ZNF9 gene resp. which are connected with DM1 and DM2. The mutations resposible for DM1 and DM2 are the short repetitive sequences and one from the next steps in diagnostics is the assessment of the number of the repeats by PCR (in shorter alleles) and Souther hybridization. The next task of the project is clinical, electrophysiological and cardiological testing of the DM1 and DM2 patients and the final evaluation of the correlation between the phenotypic features and the detected mutations."@en . . . . "C\u00EDlem p\u0159edkl\u00E1dan\u00E9ho projektu je zaveden\u00ED metody FISH vyu\u017E\u00EDvaj\u00EDc\u00ED antisense oligonukleotidov\u00E9 sondy pro diagnostiku expandovan\u00FDch repetitivn\u00EDch sekvenc\u00ED CTG a CCTG v genu DMPK resp. ZNF9 spojen\u00FDch s diagnosou DM1 resp. DM2. Typem mutace odpov\u011Bdn\u00E9 za DM1 a DM2 je expanze kr\u00E1tk\u00FDch repetitivn\u00EDch sekvenc\u00ED a jedn\u00EDm z dal\u0161\u00EDch diagnostick\u00FDch krok\u016F je ur\u010Den\u00ED po\u010Dtu t\u011Bchto repetic metodou PCR (u alel s men\u0161\u00EDm po\u010Dtem repetic) a Southernovy hybridizace. Dal\u0161\u00EDm \u00FAkolem projektu je klinick\u00E9, elektromyografick\u00E9 a kardiologick\u00E9 sledov\u00E1n\u00ED pacient\u016F s diagn\u00F3zou DM1 a DM2 a z\u00E1v\u011Bre\u010Dn\u00E9 vyhodnocen\u00ED korelace mezi fenotypov\u00FDmi projevy a detekovan\u00FDmi zm\u011Bnami na molekul\u00E1rn\u00ED a bun\u011B\u010Dn\u00E9 \u00FArovni." . . " antisense probes" . . "2007-08-08+02:00"^^ . . " repetitive sequences" . . . "DIFERENCI\u00C1LN\u00CD DIAGNOSTIKA MYOTONICK\u00C9 DYSTROFIE DM1 A DM2 ZAVEDEN\u00CDM METODIKY FLUORESCEN\u010CN\u00CD HYBRIDIZACE IN SITU." . " Southern hybridization" . "Results of the project is introduktion of DNA testing of patients with DM1 and DM2 in Czech republic."@en . "25"^^ . "25"^^ . . " FISH" . "myotonic dystrophy" . . "myotonic dystrophy; DM1; DM2; FISH; antisense probes; repetitive sequences; Southern hybridization; histopathological analysis"@en . " DM2" . . . . "DIFFERENTIAL DIAGNOSIS OF MYOTONIC DYSTROPHY DM1 AND DM2 BY INTRODUCTION OF FLUORESCENT IN SITU HYBRIDIZATION METHODS."@en . "NR8052" . " DM1" .