| Autor: |
Da Silva-José TD; División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Sierra Mojada 800, Col. Independencia, Guadalajara, 44340, Jalisco, Mexico., Juárez-Rendón KJ, Juárez-Osuna JA, Porras-Dorantes A, Valladares-Salgado A, Cruz M, Gonzalez-Ibarra M, Soto AG, Magaña-Torres MT, Sandoval-Ramírez L, García-Ortiz JE |
| Jazyk: |
angličtina |
| Zdroj: |
JIMD reports [JIMD Rep] 2015; Vol. 23, pp. 123-7. Date of Electronic Publication: 2015 May 13. |
| DOI: |
10.1007/8904_2015_442 |
| Abstrakt: |
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). |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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