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  1. Genetic epidemiology of single gene defects in Chile.

    Article - En anglais

    We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile.

    It present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture.

    Fewer than 4% of the Chilean population are foreign born.

    Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range ofthe white population.

    Classical ethnic diseases are very rare.

    Autosomal recessive disorders have a wide range of variability : cystic fibrosis has a low incidence and PKU has a similar incidence to English rates.

    Only 30% of the inborn errors of metabolism have been described in Chilean medical publications.

    Mots-clés Pascal : Maladie héréditaire, Génétique épidémiologique, Chili, Amérique du Sud, Amérique, Prévalence, Epidémiologie, Homme, Mutation unique

    Mots-clés Pascal anglais : Genetic disease, Epidemiologic genetics, Chile, South America, America, Prevalence, Epidemiology, Human

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 94-0643142

    Code Inist : 002B23A. Création : 09/06/1995.