Article
Human CHIT1 gene distribution: new data from Mediterranean and European populations.
Journal of human genetics - 1 Jan 2007
Piras Ignazio, Melis Alessandra, Ghiani Maria Elena, Falchi Alessandra, Luiselli Donata, Moral Pedro, Varesi Laurent, Calò Carla Maria, Vona Giuseppe
Abstract excerpt
A 24 bp duplication in the CHIT1 gene (H allele) is associated with a deficiency in the activity of chitotriosidase, an enzyme with the capability to hydrolyse chitin. A recent study in European and two sub-Saharan populations suggested a relationship between the presence of the mutation, improved environmental conditions, and the disappearance of parasitic diseases, including Plasmodium falciparum malaria. This...
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