Unusual features in the inheritance of ataxia telangiectasia.
A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million.
The prevalence in those aged 50 or less was found to be 1 in 514000 and the birth frequency to be about 1 in 300000.
A genetic study of 47 families ascertained throughout the United Kingdom was carried out concurrently.
A low parental consanguinity rate was found, no parents being first cousins or more closely related, whereas 10% had been expected.
The incidence of ataxia telengiectasia in the 79 sibs of index cases was 1 in 7. These two features demonstrate that ataxia telangiectasia may not always be an autosomal recessive condition.
Mots-clés Pascal : Ataxie télangiectasie, Prévalence, Incidence, Fragilité chromosomique, Maladie héréditaire, Immunopathologie, Peau pathologie, Système nerveux pathologie, Déterminisme génétique, Epidémiologie, Homme, Consanguinité, Etude familiale
Mots-clés Pascal anglais : Ataxia telangiectasia, Prevalence, Incidence, Chromosome fragility, Genetic disease, Immunopathology, Skin disease, Nervous system diseases, Inheritance, Epidemiology, Human, Consanguinity, Family study
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 91-0224470
Code Inist : 002B23C. Création : 199406.