We report findings in phase II of a pilot study of cystic fibrosis (CF) carrier screening/testing by mutation analysis.
Phase I has been reported elsewhere.
Eligible participants in phase II (n=815) were students (15 to 17 years of age) in public high schools.
An educational component (exchange of information and discussion about common genetic disorders including CF) preceded, by one week or more, voluntary participation in the screening component which required a blood sample.
The uptake rate for screening was 42%. Nine carriers (2pq=0.0260) were identi fied, all with the dF508 mutation; students were also tested for G551D, G542X, W1282X, and -549mutations, but no carriers of these alleles were found.
Carriers had positive views of the education and testing experiences.
Mots-clés Pascal : Mucoviscidose, Hétérozygotie, Dépistage, Diagnostic, Appareil respiratoire pathologie, Appareil digestif pathologie, Pancréas pathologie, Maladie héréditaire, Attitude, Adulte jeune, Homme
Mots-clés Pascal anglais : Mucoviscidosis, Heterozygozity, Medical screening, Diagnosis, Respiratory disease, Digestive diseases, Pancreatic disease, Genetic disease, Attitude, Young adult, Human
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Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 93-0555023
Code Inist : 002B13C03. Création : 199406.