From a total of 490 cystic fibrosis (CF) high-risk families under supervision (mostly Russian Slavs from the European part of the country), DNA data including both direct screening for some CF gene (CFTR) mutations (delF508, G551D and 1677delTA) and allelic polymorphism studies with tightly CF linked DNA markers were collected from 261 families.
All full families (129) and 86 CF families with a deceased index child were found to be either fully (42 per cent) or partially (40 per cent) informative for DNA analysis.
Prenatal diagnosis (PD) was carried out in 161 CF families.
Mots-clés Pascal : Appareil digestif pathologie, Appareil respiratoire pathologie, Maladie héréditaire, Mucoviscidose, Homme, Diagnostic, Prénatal, Biologie moléculaire, Méthodologie, Programme, URSS
Mots-clés Pascal anglais : Digestive diseases, Respiratory disease, Genetic disease, Mucoviscidosis, Human, Diagnosis, Prenatal, Molecular biology, Methodology, Program, USSR
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 93-0106049
Code Inist : 002B13C03. Création : 199406.