Da Silva-José T D, Juárez-Rendón K J, Juárez-Osuna J A, Porras-Dorantes A, Valladares-Salgado A, Cruz M, Gonzalez-Ibarra M, Soto A G, Magaña-Torres M T, Sandoval-Ramírez L, García-Ortiz José Elías
División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Sierra Mojada 800, Col. Independencia, Guadalajara, 44340, Jalisco, Mexico.
JIMD Rep. 2015;23:123-7. doi: 10.1007/8904_2015_442. Epub 2015 May 13.
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).
壳三糖苷酶（CHIT，EC 3.2.1.14）是一种由活化巨噬细胞分泌的酶，具有水解病原体几丁质的能力。该酶的高活性已被用作戈谢病（OMIM 230800）患者治疗反应的次要生物标志物。在世界人口中，约6%为CHIT1基因最常见多态性（24 bp重复，dup-24 bp）的纯合子，35%为杂合子，该重复的纯合性会导致该酶失活，但对健康无重大影响。为了确定墨西哥本土人群中dup-24 bp CHIT1基因的频率，分析了692个样本：普埃佩查人（49个）、塔拉乌马拉人（97个）、惠乔尔人（97个）、玛雅人（139个）、特内克人（97个）和纳瓦人（213个）。我们发现这些群体处于哈迪-温伯格平衡状态。dup-24 bp等位基因频率（从高到低）依次为37%（玛雅人）、34%（惠乔尔人和纳瓦人）、33%（普埃佩查人）、31%（特内克人）和29%（塔拉乌马拉人）。
