Résumé
Las poblaciones humanas obedecen a los mismos supuestos evolutivos que el resto de los organismos, aunque mezclados con elementos sociales y culturales que pueden promover la expresión de ciertas enfermedades en grupos étnicos específicos, causadas principalmente por la frecuente endogamia. En este trabajo se analiza el principio de Hardy-Weinberg desde un enfoque médico, social y biológico, para entender los procesos evolutivos que dan lugar a las enfermedades autosómicas recesivas. A manera de conclusión se puede señalar que la incidencia de estas enfermedades está inversamente relacionada con los niveles de la variabilidad genética en las poblaciones, variabilidad que depende de eventos de colonización, recolonización y migración, así como de convenciones sociales como el racismo, la estratificación social y la segregación.
Human populations follow the same evolutionary principles as other organisms, although mixed with social and cultural elements, which can result in a high prevalence of certain diseases within specific ethnic groups. In this work, the Hardy-Weinberg principle is analyzed from a medical, social and biological viewpoint to understand the evolutionary processes of autosomal recessive diseases. It can be concluded that the incidence of these diseases is inversely related to the levels of genetic variability within populations, which depends on colonization, recolonization and migration events, as well as on social conventions such as racism, social stratification and segregation.
Sujets)
Humains , Génétique médicale/méthodes , Génétique des populations/méthodes , Évolution biologique , Culture (sociologie) , Fréquence d'allèle , Interaction entre gènes et environnement , Gènes récessifs , Dérive génétique , Prédisposition génétique à une maladie , Maladies génétiques congénitales/ethnologie , Maladies génétiques congénitales/génétique , Mariage , Modèles génétiques , Phénotype , Prévalence , Sélection génétique , Comportement socialRésumé
We report on a three-year-old Kuwaiti boy with the aim of making pediatricians and geneticists aware of the clinical and biochemical findings of infantile Tay-Sachs disease [TSD] in Arab populations. It is essential that there is no delay in establishing the diagnosis in order to ensure appropriate genetic counseling. The boy was first evaluated when he was 17 months old with profound hypotonia and significant global developmental delay and he died at the ago of three years. The clinical and biochemical findings of this patient are compared with other reported Arab cases to illustrate that TSD exists amongst Arabs with an unknown incidence and probably is more common than thought previously. There isa need for additional research to delineate molecular phenotypes of this disorder in Arabs and to offer carrier detection especially in high-risk families