Objetivo Alport syndrome (as) is a severe hereditary disease leading young affected males and some affected famales to the double handicap of renal failure and deafness. Most cases of as are x-linked, and mutations in the col4a5 gene located at xq22 and coding for the a5 chain of type IV collagen have vow detected in 10 to 15 of investigated families. In addition autosomal inheritance does exist. Auutosomal dominant transmission seems to be rare whereas the incidence of autosomal recessive inheritance is probably higher than previously thought. The candidate genes for autosomal as are col4a3 and col4a4 coding for the a3 and a4 chains of collagen IV respectively, and located on chromosome 2. A concerted action has been set up to progress rapidly in the knowledge of as phenotypes and the identification of the specific gene defect in each family. Two new investigators with to join the CA within a PECO programme. The specific aim of the Slovak group is to characterize a severe as variant observed frequently in the ethnic isolate of Gypsies and which seems to be transmitted as an autosomal dominant trait. The group of Poland is organizing a study of as at the national level for 1) evaluation of the incidence of the disease and 2) characterization of the phenotype and the genotype of as in Poland. Both groups have acquired a good experience in molecular genetic. Programa(s) IC-PECO/COPERNICUS - Scientific and technological cooperation between the European Community and European non-member countries, 1992- Tema(s) 0201 - CEEC participation in BIOMEDICAL AND HEALTH RESEARCH programme Convocatoria de propuestas Data not available Régimen de financiación CSC - Cost-sharing contracts Coordinador Institut National de la Santé et de la Recherche Médicale Aportación de la UE Sin datos Dirección 149,Rue de Sèvres 75743 Paris Francia Ver en el mapa Coste total Sin datos Participantes (1) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo Polish-American Children's Hospital Polonia Aportación de la UE Sin datos Dirección 265,Ul. Wielicka 30 663 Kraków Ver en el mapa Coste total Sin datos
