Reference:
301/01/P068
Abstract:
ProjektGA CR 301/01/P068 focused on molecular-biological analysis MeCP2genu. Its defect leads to clinical manifestations of Rett syndrome (RS) (OMIM312750), which is the second most common cause of mental retardation dívek.Dědičnost RS gonosomal dominant with incidence approximately 1 to 000 10000-15; vast majority of mutations created de novo. MECP2 gene, described in 1999, is located on chromosome Xq28. We initiated cooperation Council, fixes neurological offices in the Czech Republic and Slovakia, and during the grant period bylvyšetřen large and compact set of 58 girls with a clinical diagnosis of MS. Uvšech We examined the coding sequence and adjacent intronic area anašli total of 20 different mutations in 48 girls (83% of all examined).Four znalezených 20 mutations were previously undescribed mutations (904CT leads kaminokyselinové change P302S; 1063-1234del172ins41 leads to a shift čtecíhorámce after S357, 1069-1071delAGC deletion results in a deletion of S357 without moving čtecíhorámce; IVS2-16delT deletion in intron 2). Were found in three dosudnepopsané polymorphisms (587CG leads kT196S; 1161CT does not lead to změněaminokyseliny – P387P; IVS3 +22 CG in intron 3). From an popsanýchmutací was the most common mutation T158 (total of 10), four were nalezenymutace R133C, R306C and R294X, three mutations R106W and R270X, twice mutaceR168X and G269fs. Once a mutation was found the following: S134C, K135E, Y141X, S204X, H372fs, P385fs, P388fs. We observed Slavic populacenemocných RS is significantly different from other files dominant zastoupenímmutace T158 (21% of all mutations), such as large file jen7 French, 8%. These findings dictate our strategy in molecular biologickéanalýze. In searching for possible modulating factors RS vyšetřilipolymorfizmy ApoE and we found among the group significantly higher zastoupeníalely ApoE4. Further observations will show whether holders of homozygosity proApoE4 have more serious clinical course. Grant project led to the preparation of 3Publication, 10 communications at international congresses and 5 národníchsjezdech. Extremely important outcome is the establishment of the “Association of Parents and Friends of Children with Rett syndrome \” (http:/www.rettsyndrome.com/czech.htm).
PROJECT DETAILS
beginning: 2003.
end: 2006.
Country of research: Czech Republic
Counry of funding source: Czech Republic
Funding organization: Czech Science Foundation
Financing: NATIONAL FUNDINGS – 25 905 €