Chapter title |
Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations
|
---|---|
Chapter number | 442 |
Book title |
JIMD Reports, Volume 23
|
Published in |
JIMD Reports, July 2015
|
DOI | 10.1007/8904_2015_442 |
Pubmed ID | |
Book ISBNs |
978-3-66-247466-2, 978-3-66-247467-9
|
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, 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 |
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). |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 7 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Postgraduate | 2 | 29% |
Professor > Associate Professor | 1 | 14% |
Student > Master | 1 | 14% |
Unknown | 3 | 43% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 2 | 29% |
Medicine and Dentistry | 2 | 29% |
Neuroscience | 1 | 14% |
Unknown | 2 | 29% |