. "0"^^ . . "C\u00EDlem projektu byla studie biochemick\u00E9 a molekul\u00E1rn\u00ED podstaty jatern\u00EDch forem glykogen\u00F3zy(GSD). Poda\u0159ilo se charakterizovat pacienty s GSD v \u010CR a \u010D\u00E1ste\u010Dn\u011B i SR, byla z\u00EDsk\u00E1na prvn\u00ED data o distribuci a frekvenci n\u011Bkter\u00FDch mutac\u00ED v genech pro glykogen\u00F3zu VI"@cs . "1"^^ . "Glykogenosy (GSD) jsou souborem autosom\u00E1ln\u011B recesivn\u00EDch nebo X-v\u00E1zan\u00FDch poruch v metabolismu odbour\u00E1v\u00E1n\u00ED nebo synt\u00E9zy glykogenu. \u010Cty\u0159i nej\u010Dast\u011Bj\u0161\u00ED poruchy zauj\u00EDmaj\u00ED 90% v\u0161ech p\u0159\u00EDpad\u016F. Diagn\u00F3za se zat\u00EDm stanovuje na z\u00E1klad\u011B histochemick\u00FDch a biochemick\u00FDchvy\u0161et\u0159en\u00ED. L\u00E9\u010Dba spo\u010D\u00EDv\u00E1 ve v\u010Dasn\u00E9 diet\u011B, n\u011Bkter\u00E9 typy onemocn\u011Bn\u00ED jsou v\u0161ak let\u00E1ln\u00ED. Rozvoj PCR a dal\u0161\u00EDch molekul\u00E1rn\u011B biologick\u00FDch metod umo\u017E\u0148uje velmi p\u0159esn\u00E9 studie poruch vedouc\u00EDch k patologick\u00FDm stav\u016Fm. C\u00EDlem projektu je DNA anal\u00FDza gen\u016F pro GSD typu I, II, III a IVa. 1) Zjistit distribuci a frekvenci mutac\u00ED. 2) Identifikovat nov\u00E9 mutace vyskytuj\u00EDc\u00ED se specificky v na\u0161\u00ED populaci. 3) V dosud neobjasn\u011Bn\u00E9m mechnismu zjistit, zda porucha GSD III je zp\u016Fsobena defektem na \u00FArovni transkripce nebo translace . 4) Zav\u00E9st prenat\u00E1ln\u00ED diagnostiku glykogenos p\u0159\u00EDmou DNA anal\u00FDzou. Pr\u00E1ce navazuje na ji\u017E \u0159adu let prob\u00EDhaj\u00EDc\u00ED v\u00FDzkum d\u011Bdi\u010Dn\u00FDch metabolick\u00FDch poruch na pracovi\u0161t\u00EDch navrhovatele a spolunavrhovatel\u016F." . . . . . . . . "The comprehensive study of glycogen storage disease based on DNA analysis."@en . "5"^^ . . "Komlexn\u00ED studie glykogenos zalo\u017Een\u00E1 na DNA anal\u00FDze" . . "5"^^ . "GA302/97/0742" . . "http://www.isvav.cz/projectDetail.do?rowId=GA302/97/0742"^^ . . . "Glycogen storage disease (GSD) is a group of disorders in the synthesis of degradation of glycogen with autosomal recessive or X-linked inheritance.Four types (l,ll,lll and Vl) are the most common,they account for over 90%.The diagnosis is established byhistochemical and biochemical investigations.The basis of the treatment is the early diet but some types of GSD are lethal.Development of PCR and other molecular biological methods is a assumption for very precise studies of disorders leading to patholo gical status.The aim of this project is DNA analysis of genes for GSD l,ll,lll and Vla. 1/ To find distribution and frequency of mutations. 2/ To identify new mutations specific for our population. 3/ To explain the mechanism so far unknown,if the disorder in GSD lll is caused by the defect on the level of transcription or translation. 4/ To introduce the prenatal diagnosis of GSD by direct DNA analysis. This work links with long-term research of the inherited metabolic diseases in the Institutes of th"@en . "0"^^ . .