Objectif Cells strains were collected from patients who were photosensitive due to Cockayne's Syndrome (CS) or trichothiodystrophy (TTD). Post ultraviolet (UV) ribonucleic acid (RNA) synthesis was reduced in GS. From questionnaries completed by clinicians it was seen that other indicators of CS are pigmentary retinopathy, gait defects and dental caries. Complementation analysis was carried out using 3 known complementation groups but no new complementation groups have been discovered. TTD cell strains were examined for repair synthesis and cell survivial following UV irradiation. Type 1 showed a normal response; type 2 was deficient in excision and repair of UV damage and did not complement xeroderma pigmentosum (XP) cell strains in complementation group D; type 3 has a specific deficiency in the repair of 6-4 photoproducts; this suggests DNA repair defects are in 3 different genes associated with TTD.Cockayne's Syndrome (CS) and trichothiodystrophy (TTD) are sun-sensitive disorders associated with deficiencies in the repair of cellular DNA. In CS strains RNA synthesis fails to recover after UV-irradiation. RNA synthesis after UV-irradiation will be measured in CS cell strains established from a large number of patients. Cultures of pairs of cells will be fused together and RNA synthesis measured in the binucleate heterokaryons. All CS strains can then be assigned to different complementation groups and the genetic complexity of CS can be established. TTD cells are deficient in excision-repair. The genetic complexity of TTD can be measured using similar procedures but using excision-repair as the end-point. Champ scientifique natural sciencesbiological sciencesgeneticsDNAmedical and health sciencesclinical medicineophthalmologyretinopathynatural sciencesbiological sciencesgeneticsRNA Programme(s) FP2-SCIENCE - Programme plan (EEC) to stimulate the international cooperation and interchange needed by European research scientists (SCIENCE), 1988-1992 Thème(s) Data not available Appel à propositions Data not available Régime de financement CSC - Cost-sharing contracts Coordinateur Medical Research Council (MRC) Contribution de l’UE Aucune donnée Adresse 20 Park Crescent W1N 4AL London Royaume-Uni Voir sur la carte Coût total Aucune donnée Participants (1) Trier par ordre alphabétique Trier par contribution de l’UE Tout développer Tout réduire NATIONAL RESEARCH COUNCIL OF ITALY Italie Contribution de l’UE Aucune donnée Adresse Via Abbiategrasso 207 27100 PAVIA Voir sur la carte Coût total Aucune donnée
