. "C\u00EDlem t\u00E9to studie bylo nal\u00E9zt vztah mezi p\u0159\u00EDtomnost\u00ED mutantn\u00EDch alel a v\u00FDskytem IBD a mezi TPMT-genotypem a reakc\u00ED pacienta na farmakoterapii. Pou\u017Eili jsme metody PCR, PCR-REA a real-time PCR a provedli genotypizaci t\u0159\u00ED skupin osob (pacienti s CD, pacienti s UC a zdrav\u00ED dobrovoln\u00EDci) s c\u00EDlem zjistit p\u0159\u00EDtomnost polymofismy v genech CCR5, ICAM-1, NOD2/CARD15 a TPMT. Zjistili jsme, \u017Ee mutace R702W se vyskytuje signifikantn\u011B m\u00E9n\u011B \u010Dast\u011Bji u CD ne\u017E u UC pacient\u016F. Potvrdili jsme statistickou asociaci mezi polymorfismem 1007fs a v\u00FDskytem CD i UC. Stanovili jsme asociaci mezi bodovou mutac\u00ED K469E a v\u00FDskytem obou onemocn\u011Bn\u00ED. Tyto n\u00E1lezy by mohly pomoci l\u00E9ka\u0159\u016Fm k v\u010Dasn\u00E9 diagnostice a preventivn\u00EDmu z\u00E1sahu u pacient\u016F s genetickou predispozic\u00ED. 13,16% testovan\u00FDch pacient\u016F by mohlo b\u00FDt vystaveno riziku t\u011B\u017Ek\u00E9ho ne\u017E\u00E1douc\u00EDho \u00FA\u010Dinku hematopo\u00E9ze v p\u0159\u00EDpad\u011B terapie thiopurinov\u00FDmi l\u00E9\u010Divy." . "\u010Cesk\u00E9 Bud\u011Bjovice" . "C\u00EDlem t\u00E9to studie bylo nal\u00E9zt vztah mezi p\u0159\u00EDtomnost\u00ED mutantn\u00EDch alel a v\u00FDskytem IBD a mezi TPMT-genotypem a reakc\u00ED pacienta na farmakoterapii. Pou\u017Eili jsme metody PCR, PCR-REA a real-time PCR a provedli genotypizaci t\u0159\u00ED skupin osob (pacienti s CD, pacienti s UC a zdrav\u00ED dobrovoln\u00EDci) s c\u00EDlem zjistit p\u0159\u00EDtomnost polymofismy v genech CCR5, ICAM-1, NOD2/CARD15 a TPMT. Zjistili jsme, \u017Ee mutace R702W se vyskytuje signifikantn\u011B m\u00E9n\u011B \u010Dast\u011Bji u CD ne\u017E u UC pacient\u016F. Potvrdili jsme statistickou asociaci mezi polymorfismem 1007fs a v\u00FDskytem CD i UC. Stanovili jsme asociaci mezi bodovou mutac\u00ED K469E a v\u00FDskytem obou onemocn\u011Bn\u00ED. Tyto n\u00E1lezy by mohly pomoci l\u00E9ka\u0159\u016Fm k v\u010Dasn\u00E9 diagnostice a preventivn\u00EDmu z\u00E1sahu u pacient\u016F s genetickou predispozic\u00ED. 13,16% testovan\u00FDch pacient\u016F by mohlo b\u00FDt vystaveno riziku t\u011B\u017Ek\u00E9ho ne\u017E\u00E1douc\u00EDho \u00FA\u010Dinku hematopo\u00E9ze v p\u0159\u00EDpad\u011B terapie thiopurinov\u00FDmi l\u00E9\u010Divy."@cs . "Kolorz, Michal" . . "Biotechnology 2008 - Part 3: Therapeutic and Diagnostic Systems" . . "Detekce SNP asociovan\u00FDch s IBD - genetick\u00FD z\u00E1klad prevalence onemocn\u011Bn\u00ED, bezpe\u010Dnosti a efektivity farmakoterapie" . "P(NR9342)" . "16370" . . . "362883" . "Barto\u0161ov\u00E1, Ladislava" . . "80-85645-58-0" . . "The aim of this study was to find a relationship between presence of mutant alleles and IBD occurrence and between TPMT-genotypes and clinical output of pharmacotherapy. We have used PCR, PCR-REA and %22real-time%22 PCR methods to genotyping three groups of persons (CD-patients, UC-patients and healthy volunteers) for presence of polymorphisms in the CCR5, ICAM-1, NOD2/CARD15 and TPMT genes. We have found, that the mutation R702W is significantly more frequent in CD than in UC patients. We have confirmed significant association with polymorphism 1007fs in both CD and UC. We have established significant association of the point mutation K496E with CD as well as with UC patients. These findings could help physicians to early diagnosis and preventive actions in patients with genetic predispositions. 13,16% of tested patients could be exposed to risk of severe hematopoietic side effect in a therapy of thiopurine drugs."@en . "[B7BAD7344A54]" . "CCR5; TPMT - PCR"@en . "Detekce SNP asociovan\u00FDch s IBD - genetick\u00FD z\u00E1klad prevalence onemocn\u011Bn\u00ED, bezpe\u010Dnosti a efektivity farmakoterapie"@cs . "RIV/62157124:16370/08:00002065!RIV09-MZ0-16370___" . "Detekce SNP asociovan\u00FDch s IBD - genetick\u00FD z\u00E1klad prevalence onemocn\u011Bn\u00ED, bezpe\u010Dnosti a efektivity farmakoterapie" . "Detekce SNP asociovan\u00FDch s IBD - genetick\u00FD z\u00E1klad prevalence onemocn\u011Bn\u00ED, bezpe\u010Dnosti a efektivity farmakoterapie"@cs . "SNP associated with IBD - genetical basis od disease prevalence, safety and effectivity of pharmacology."@en . "RIV/62157124:16370/08:00002065" . . "3"^^ . . . "SNP associated with IBD - genetical basis od disease prevalence, safety and effectivity of pharmacology."@en . . . . "3"^^ . "Scientific Pedagogical Publishing (edited by V. \u0158ehout)" . "Ho\u0161ek, Jan" . "2"^^ . . .