BACKGROUND: human chitotriosidase is a secreted enzyme by activated macrophages, detectable in plasma. Levels of chitotriosidase indicate severity of Gaucher disease and monitoring the efficiency of the enzyme replacement therapy. The most frequent polymorphism in chitotriosidase-1 gene (CHIT1) corresponds to a 24-bp duplication (24-bp Dup) that in homozygotes individuals gives place to the enzyme inactivation. The objective was to identify in a sample of Mexican health population the 24-bp Dup in CHIT1 gene and determinate the allelic and genotypic frequencies. METHODS: 306 DNA samples of healthy individuals were analyzed in polyacrylamide gels and the allelic and genotypic frequencies was determined with SPSS v. 13.0. RESULTS: distribution of the 24-bp Dup was in accordance to Hardy-Weinberg equilibrium (p = 0.90), with an allelic frequency of 23.86 %. Genotypic frequencies for homozygous and hetero-zygotes were of 5.56 % and 36.60 % respectively. CONCLUSIONS: allelic and genotypic frequencies of the 24-bp Dup in CHIT1 gene in homozygotes and heterozygotes were in accordance to worldwide reports.
BACKGROUND:human chitotriosidase is a secreted enzyme by activated macrophages, detectable in plasma. Levels of chitotriosidase indicate severity of Gaucher disease and monitoring the efficiency of the enzyme replacement therapy. The most frequent polymorphism in chitotriosidase-1 gene (CHIT1) corresponds to a 24-bp duplication (24-bp Dup) that in homozygotes individuals gives place to the enzyme inactivation. The objective was to identify in a sample of Mexican health population the 24-bp Dup in CHIT1 gene and determinate the allelic and genotypic frequencies. METHODS: 306 DNA samples of healthy individuals were analyzed in polyacrylamide gels and the allelic and genotypic frequencies was determined with SPSS v. 13.0. RESULTS: distribution of the 24-bp Dup was in accordance to Hardy-Weinberg equilibrium (p = 0.90), with an allelic frequency of 23.86 %. Genotypic frequencies for homozygous and hetero-zygotes were of 5.56 % and 36.60 % respectively. CONCLUSIONS: allelic and genotypic frequencies of the 24-bp Dup in CHIT1 gene in homozygotes and heterozygotes were in accordance to worldwide reports.
Authors: T D Da Silva-José; K J Juárez-Rendón; J A Juárez-Osuna; A Porras-Dorantes; A Valladares-Salgado; M Cruz; M Gonzalez-Ibarra; A G Soto; M T Magaña-Torres; L Sandoval-Ramírez; José Elías García-Ortiz Journal: JIMD Rep Date: 2015-05-13
Authors: N Manno; S Sherratt; F Boaretto; F Mejìa Coico; C Espinoza Camus; C Jara Campos; S Musumeci; A Battisti; R J Quinnell; J Mostacero León; G Vazza; M L Mostacciuolo; M G Paoletti; F H Falcone Journal: Carbohydr Polym Date: 2014-07-16 Impact factor: 9.381