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A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditio...,
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Discipline: Indisponible
Auteur(s): K. SIMPORE
Auteur(s) tagués: SIMPORE K. Jacques
Renseignée par : SIMPORE K. Jacques
Résumé

Human chitotriosidase (Chit) is a member of the chitinase family and it is synthesized by activated macrophages. Recently, a genetic polymorphism was found to be responsible for the common deficiency in Chit activity, frequently encountered in different populations. We analyzed the Chit gene in some ethnic groups from the Mediterranean and African areas, to evaluate whether the Chit gene polymorphism correlates with the changes in environmental features and the disappearance of parasitic diseases. We found a heterozygote frequency for the duplication of 24 bp in exon 10 of 44% in Sicily and 32.71% in Sardinia, whereas those homozygous Chit deficient were 5.45 and 3.73%, respectively. In contrast, in Benin and Burkina Faso, both mesoendemic regions for Plasmodium falciparum malaria and other infections due to intestinal parasites, a low incidence of Chit mutation was found …

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