"2008-12-31+01:00"^^ . "http://www.isvav.cz/projectDetail.do?rowId=1QS500450578"^^ . "To elaborate molecular genetic methods for practical testing of hereditary retinal atrophy (PRA) in different dog breeds. The aim of the project is to determine homozygotes for the disease and heterozygotes - carriers of the disease, correct breeding plans in cooperation with breeders clubs to decrease disease frequency in purebred breeds in our country. Eight mutations controlling the disease development in different dog breeds have already been described. Some methods of practical testing are unfortunately patented. One of the mutation causing the disease in briards and beagles is deletion of 4 base pairs in exon 5 of RPE65 gene. Fragment of this reagion has already been amplified and sequenced in our lab. PCR fragments were succesfully tested for polymorphism by electrophoresis in agarose gel for practical use. A similar approach will be used for some other mutations in candidate genes usion some other methods as well (DGGE, SSCP)."@en . . "Byly studov\u00E1ny p\u0159\u00ED\u010Dinn\u00E9 mutace d\u011Bdi\u010Dn\u00E9 slepoty (CSNB, CEA, PRCD, rcd 1a, cord 1) v populac\u00EDch 22 \u010Distokrevn\u00FDch plemen ps\u016F. Ve spolupr\u00E1ci s chovatelsk\u00FDmi kluby byly konzultov\u00E1ny \u00FApravy p\u0159ipa\u0159ovac\u00EDch pl\u00E1n\u016F, studium dal\u0161\u00EDch mutac\u00ED a modifika\u010Dn\u00EDch gen\u016F."@cs . "1QS500450578" . . "2009-07-02+02:00"^^ . "0"^^ . "4"^^ . "4"^^ . "1"^^ . "2008-02-21+01:00"^^ . . . . " amplification" . "0"^^ . . . . . . " DNA analysis" . " molecular genetic methods" . " hereditary retinal atrophy" . . "Population and molecular-genetic studies of progressive retinal atrophies (PRA) in dog breeds bred in Czech Republic - methods of their detection"@en . "Popula\u010Dn\u00ED a molekul\u00E1rn\u011B genetick\u00E1 studia progresivn\u00ED retin\u00E1ln\u00ED atrofie (PRA) u plemen ps\u016F chovan\u00FDch v \u010CR - metody anal\u00FDz a prevence" . . "Causative mutations for inherited blindness (CSNB, CEA, PRCD, rcd 1a, cord 1) were studied in 22 populations of purebred dogs. In cooperation with breeders clubs breeding management was consulted and studies of other mutations and modifiers were started."@en . " primers" . "frequences; dog; molecular genetic methods; hereditary retinal atrophy; PRA; DNA analysis; primers; amplification; sequences"@en . . "frequences" . "Rozpracovat molekul\u00E1rn\u011B genetick\u00E9 metody pro praktick\u00E9 testov\u00E1n\u00ED heredit\u00E1rn\u00ED atrofie s\u00EDtnice (PRA) u r\u016Fzn\u00FDch plemen ps\u016F. C\u00EDlem projektu je poznat jedince homozygotn\u00ED je\u0161t\u011B p\u0159ed rozvojem choroby a heterozygoty - nositele vlohy, upravit p\u0159ipa\u0159ovac\u00ED pl\u00E1ny a ve spolupr\u00E1ci s chovatelsk\u00FDmi kluby sn\u00ED\u017Eit v\u00FDskyt defektu u \u010Distokrevn\u00FDch plemen ps\u016F chovan\u00FDch u n\u00E1s. V sou\u010Dasn\u00E9 dob\u011B je pops\u00E1no 8 p\u0159\u00ED\u010Dinn\u00FDch mutac\u00ED kontroluj\u00EDc\u00EDch v\u00FDvoj choroby. Metody praktick\u00E9ho vyu\u017Eit\u00ED jsou v\u0161ak patentov\u00E1ny. Jednou z p\u0159\u00ED\u010Dinn\u00FDch mutac\u00ED, kter\u00E1 kontroluje v\u00FDvoj choroby u briard\u016F a b\u00EDgl\u016F je delece 4 b\u00E1z\u00ED v exonu 5, genu RPE65. Fragment tohoto \u00FAseku genu byl v na\u0161\u00ED laborato\u0159i amplifikov\u00E1n a sekvenov\u00E1n. Elekrofor\u00E9zou v agarozov\u00E9m gelu byl pozorov\u00E1n polymorfismus PCR fragment\u016F, co\u017E je metoda pro praktick\u00E9 testov\u00E1n\u00ED t\u00E9to mutace. Podobn\u011B bude postupov\u00E1no u dal\u0161\u00EDch mutac\u00ED vyu\u017Eit\u00EDm i dal\u0161\u00EDch metod (DGGE, SSCP, aj.)." . " PRA" . . . . . "2005-07-01+02:00"^^ . . " dog" .