"0"^^ . . "http://www.isvav.cz/projectDetail.do?rowId=GA301/95/1606"^^ . . "Studium mutac\u00ED CFTR genu, vztahu genotypu a fenotypu pro \u010Dasnou prevenci, diagnostiku a l\u00E9\u010Dbu cystick\u00E9 fibr\u00F3zy" . . . "Cystick\u00E1 fibrosa (CF) je nej\u010Dast\u011Bj\u0161\u00ED (1:2500) let\u00E1ln\u00ED autosom\u00E1ln\u011B recesivn\u00ED metabolickou vadou. L\u00E9\u010Dba pouze prodlu\u017Euje p\u0159e\u017E\u00EDv\u00E1n\u00ED d\u011Bt\u00ED do dosp\u011Blosti. Je nutn\u00E1 celo\u017Eivotn\u00ED n\u00E1kladn\u00E1 farmakoterapie poruch za\u017E\u00EDv\u00E1n\u00ED a recidivuj\u00EDc\u00EDch respira\u010Dn\u00EDch infekc\u00ED. Je zn\u00E1mo v\u00EDce ne\u017E 400 mutac\u00ED CFTR genu. Jejich frekvence je r\u016Fzn\u00E1 v r\u016Fzn\u00FDch populac\u00EDch. C\u00EDlem projektu je: 1. Charakterisovat molekul\u00E1rn\u011B geneticky nejm\u00E9n\u011B 95 % CFTR mutac\u00ED u n\u00E1s. 2. Zjistit jejich etnick\u00FD p\u016Fvod. 3. Vyvinout jednoduch\u00FD a citliv\u00FD test na jejich z\u00E1chyt. 4. Zjistit frekvenci mutac\u00ED a extragenov\u00FDch marker\u016F CF u novorozenc\u016F, ve st\u0159edn\u00EDm v\u011Bku a u star\u00FDch lid\u00ED, aby bylo lze zjistit mo\u017Enou selekci jedinc\u016F s ur\u010Dit\u00FDm genotypem a zjistit frekvenci CFTR genu, nosi\u010D\u016F a posti\u017Een\u00FDch homozygot\u016F. 5. P\u0159ipravit metody selektivn\u00EDho a popula\u010Dn\u00EDho screeningu CF. 6. Zajistit 100 % informativitu a diagnostickou spolehlivost prenat\u00E1ln\u00ED prevence CF. 7. Objasnit vztah mezi genotypem a fenotypem, vlivy intragenov\u00FDch a extragenov\u00FDch interakc\u00ED na fenotyp a intrafamili\u00E1r" . . . . . . . "GA301/95/1606" . "Study of CFTR gene mutations, of genotype and phenotype correlations for early prevention, diagnosis and treatment of cystic fibrosis"@en . . . . "1"^^ . "0"^^ . "1"^^ . "0"^^ . .