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  1. Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females.

    Article - En anglais

    The aims of this study were to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to describe the different mutations in the population, to determine its prevalence, and to study inheritance patterns in families of G6PD-deficient individuals.

    All infants born at Tawam Hospital.

    Al-Ain, UAE from January 1994 to September 1996 were screened at birth for their G6PD status.

    In addition, those attending well-baby clinics during the period were also screened for the disorder.

    Families of 40 known G6PD-deficient individuals, selected randomly from the records of three hospitals in the country, were assessed for G6PD deficiency.

    Where appropriate, this was followed by definition of G6PD mutations.

    Of 8198 infants. 746 (9.1%). comprising 15% of males and 5% of females tested, were found to be G6PD deficient.

    A total of 27 families were further assessed : of these, all but one family had the nt563 Mediterranean mutation.

    In one family, two individuals had the nt202 African mutation.

    The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and or to the presence of an'enhancer'gene that makes the expression of the G6PD deficiency more likely. (...)

    Mots-clés Pascal : Déficit, Glucose-6-phosphate 1-dehydrogenase, Oxidoreductases, Enzyme, Femelle, Homme, Emirats Arabes Unis, Asie, Prévalence, Mutation, Gène, Etude familiale, Expression génique, Hémopathie, Anémie hémolytique, Métabolisme pathologie, Enzymopathie, Maladie héréditaire

    Mots-clés Pascal anglais : Deficiency, Glucose-6-phosphate 1-dehydrogenase, Oxidoreductases, Enzyme, Female, Human, United Emirates, Asia, Prevalence, Mutation, Gene, Family study, Gene expression, Hemopathy, Hemolytic anemia, Metabolic diseases, Enzymopathy, Genetic disease

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

    Cote : 99-0143418

    Code Inist : 002B22D03. Création : 16/11/1999.