title: Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.
abstract: Chitotriosidase (CHIT, EC 3.2.1.14) is an enzyme secreted by activated macrophages with the ability to hydrolyze the chitin of pathogens. The high activity of this enzyme has been used as a secondary biomarker of response to treatment in patients with Gaucher disease (OMIM 230800). Within the world's population, approximately 6% is homozygous and 35% is heterozygous for the most common polymorphism in the CHIT1 gene, a 24-bp duplication (dup-24 bp), with homozygosity of this duplication causing inactivation of the enzyme but without major consequences for health. To determine the frequency of the dup-24 bp CHIT1 gene in indigenous populations from Mexico, 692 samples were analyzed: Purepecha (49), Tarahumara (97), Huichol (97), Mayan (139), Tenek (97), and Nahua (213). We found that the groups were in Hardy-Weinberg equilibrium. The dup-24 bp allele frequency was found to be (in order of highest to lowest) 37% (Mayan), 34% (Huichol and Nahua), 33% (Purepecha), 31% (Tenek), and 29% (Tarahumara).
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Sierra Mojada 800, Col. Independencia, Guadalajara, 44340, Jalisco, Mexico.
authors.forename: T D
authors.initials: TD
authors.lastname: Da Silva-José
authors.forename: K J
authors.initials: KJ
authors.lastname: Juárez-Rendón
authors.forename: J A
authors.initials: JA
authors.lastname: Juárez-Osuna
authors.forename: A
authors.initials: A
authors.lastname: Porras-Dorantes
authors.forename: A
authors.initials: A
authors.lastname: Valladares-Salgado
authors.forename: M
authors.initials: M
authors.lastname: Cruz
authors.forename: M
authors.initials: M
authors.lastname: Gonzalez-Ibarra
authors.forename: A G
authors.initials: AG
authors.lastname: Soto
authors.forename: M T
authors.initials: MT
authors.lastname: Magaña-Torres
authors.forename: L
authors.initials: L
authors.lastname: Sandoval-Ramírez
authors.forename: José Elías
authors.initials: JE
authors.lastname: García-Ortiz