"10"^^ . . "NR8086" . "Syndrom neklidn\u00FDch nohou (Restless legs syndrome - RLS) je onemocn\u011Bn\u00ED charakterizovan\u00E9 nucen\u00EDm pohybovat kon\u010Detinami (p\u0159ev\u00E1\u017En\u011B doln\u00EDmi) spojen\u00FDm s nep\u0159\u00EDjemn\u00FDmi pocity. P\u0159\u00EDznaky jsou v\u00FDznamn\u011Bj\u0161\u00EDm v klidu a ve\u010Der a v noci. \u010Cast\u00FD je rodinn\u00FD v\u00FDskyt. C\u00EDlem pr\u00E1ce je ur\u010Dit v \u010Desk\u00E9 populaci typ d\u011Bdi\u010Dnosti famili\u00E1rn\u00EDch forem RLS a nal\u00E9zt jejich laboratorn\u00ED a klinick\u00E9 odli\u0161nosti. D\u00E1le ve spolupr\u00E1ci s evropsk\u00FDmi centry vyhled\u00E1vat oblasti genomu \u010Dlov\u011Bka determinuj\u00EDc\u00ED RLS a ov\u011B\u0159it vybran\u00E9 kandid\u00E1tn\u00ED geny. Z\u00E1kladem je otev\u0159en\u00E1 studie u pacient\u016F s ob\u011Bma formami RLS. V evropsk\u00E9 multicentrick\u00E9 genetick\u00E9 studii RLS bude u vhodn\u00FDch rodin proveden genome-wide scan pomoc\u00ED sady 400 mikrosatelitn\u00EDch marker\u016F a v\u00FDsledky vyhodnoceny jako vazebn\u00E1 a sourozeneck\u00E1 studie. Dle v\u00FDsledk\u016F vazebn\u00FDch studi\u00ED a hypot\u00E9z z jin\u00FDch populac\u00ED budou vybr\u00E1ny konkr\u00E9tn\u00ED kandid\u00E1tn\u00ED geny. Jejich testov\u00E1n\u00ED prob\u011Bhne pomoc\u00ED PCR a p\u0159\u00EDslu\u0161n\u00FDch vyhodnocovac\u00EDch metod (restrik\u010Dn\u00ED polymorfismy, VNTR, SSCP apod.) na gelov\u00E9 elektroforese." . " linkage analysis" . "10"^^ . " Laboratory in RLS" . " sib-pair analysis" . . "Our study has proven good specificity a negative predictive value of the actigraphic recording. To improve its sensitivity, we suggest tu reduce the threshold of significant presence PLMS, as expressed by PLMI, from 5 to 3."@en . . . . . "0"^^ . . . "The RLS (restless legs syndrome) is a condition characterized by compulsive movements of the extremities (mostly legs) associated with discomfort. The symptoms are more marked at rest and in the evening and nocturnal hours. It often runs in the family. The purpose of the study is to determne mode of inheritance in RLS familial forms, find their laboratory and clinical dissimilarities. With European centres we will study the human genome for areas determining RLS and verify selected candidate genes. The project makes use of an open study of patients with both forms of RLS. In a European multi-centre genetic study, a genome-wide scan will be carried out in a selection of suitable families. Results will be evaluated as a linkage and sib-pair study. Specific candidate genes will be selected in accordance with the results of linkage studies pursued and hypotheses advanced in other populations. The tests will make use of PCR and relevant methods of assessment (VNTR, SSCP etc.) on gel electrophoresis."@en . "1"^^ . "0"^^ . "2007-08-08+02:00"^^ . . "RLS; Laboratory in RLS; genome-wide scan; sib-pair analysis; linkage analysis; RLS candidate genes"@en . "A study of the restless legs syndrome genetic aspects in pairs of siblings and their parents"@en . . . "Pr\u00E1ce prok\u00E1zala dobrou specificitu a negativn\u00ED prediktivn\u00ED hodnotu aktigrafie. K zlep\u0161en\u00ED senzitivity navrhujeme sn\u00ED\u017Een\u00ED hranice minim\u00E1ln\u00EDho v\u00FDznamn\u00E9ho po\u010Dtu period pohyb\u016F za hodinu z 5 na 3."@cs . . . . . "RLS" . . . "http://www.isvav.cz/projectDetail.do?rowId=NR8086"^^ . . " genome-wide scan" . "V\u00FDzkum genetick\u00FDch aspekt\u016F syndromu neklidn\u00FDch nohou u sourozeneck\u00FDch p\u00E1r\u016F a jejich rodi\u010D\u016F" . .