RESUMO
The analysis of the selective excerpt of the children with the inherited disorders has been made on the basis of the Kiev Medical Genetic Center, where the regional anonymous syndromological computer register has been organized. Register's file during 1993-96 has the information about 883 families that has a genetically ill proband. Genetic syndrome has been diagnosed in 78.02% (105 nosological points). The information taken from the register has allowed for the first time to distinguish the inherited pathology from the acquired one, so the new mutation from 30.23% out of all registered inherited disease. The necessity of the creation of the National Genetic Register in the Ukraine and the new conception of the two-stage genetical monitoring of the population has been proved.
Assuntos
Testes Genéticos/métodos , Sistema de Registros , Criança , Bases de Dados Factuais , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Humanos , Mutação/genética , Síndrome , UcrâniaRESUMO
The results of investigations indicated the necessity of genetic monitoring in population using the data of family examination in medical genetic centres. Indices of the frequency of developmental abnormalities in newborns are not suitable for monitoring because they do not permit to differentiate between new mutations and inherited ones. The dissemination of these abnormalities among newborns in Kiev mostly coincides with the same index in other European regions and is lower than in Canada and West Australia. According to the data of Kiev regional medical genetics centre, about 80% of developmental abnormalities occur as a result of inherited mutations but not new ones. Under the conditions of environmental pollution, ecogenetic consequences assume a new importance.