dc.contributor | Proyecto de Investigación Clínico Básico de la Dirección de Investigación del Hospital Clínico de la Universidad de Chile y Proyecto Fondecyt 1070954 | es-ES |
dc.creator | Álvarez, Luis; Sección de Gastroenterología. Departamento de Medicina Interna | |
dc.creator | Venegas, Mauricio; Sección de Gastroenterología. Departamento de Medicina Interna | |
dc.creator | Larrondo, Milton; Banco de Sangre | |
dc.creator | Becerra, Natalia; Sección de Gastroenterología. Departamento de Medicina Interna | |
dc.creator | Castro, Ariel; Unidad de Epidemiología | |
dc.creator | Quera, Rodrigo; Sección de Gastroenterología. Departamento de Medicina Interna|Servicio de Gastroenterología | |
dc.date | 2009-06-19 | |
dc.date.accessioned | 2019-11-11T18:26:56Z | |
dc.date.available | 2019-11-11T18:26:56Z | |
dc.identifier | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/243 | |
dc.identifier.uri | https://revistaschilenas.uchile.cl/handle/2250/110889 | |
dc.description | Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyzes the S-methylation of 6-mercaptopurine and azathioprine. Low-activity phenotypes are correlated with polymorphism in the TPMT gene. Patients with low or undetectable TPMT activity could develop severe myelosuppression when they are treated with standard doses of thiopurine drugs. Since ethnic differences in the TPMT gen polymorphism have been demonstrated worldwide, this remains to be elucidated in Chile. Aim: to investigate the TMPT gen polymorphism in a chilean blood donor population. Patients and Methods: The frequency of four allelic variants of the TPMT gene, *2 (G238C), *3A (G460A and A719G), *3B (G460A) and *3C (A719G) were analyzed in 210 chilean individuals using PCR-RFLP and allele-specific PCR-based assays Results: In total, TPMT variants associated to low enzymatic activity, were detected in 16 subjects (7.6%), who had a heterozygous genotype (*3A in 12; *3C in three and *2 in one subject). No TPMT*3B allelic variant was found. The normal allele (wild-type) was found in 92,4 % of studied individuals. Conclusions: The allele TPMT*3A, in accordance with caucasian populations, is the most prevalent in the chilean population studied. The evaluation of TPMT gen polymorphism could be useful to determinate the clinical efficacy and toxicity of thiopurine drugs. | es-ES |
dc.format | application/msword | |
dc.language | spa | |
dc.publisher | Revista Médica de Chile | es-ES |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/243/3 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/243/212 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/243/213 | |
dc.source | Revista Médica de Chile; Vol. 137, núm. 2 (2009): Febrero | es-ES |
dc.source | 0034-9887 | |
dc.subject | | es-ES |
dc.title | POLIMORFISMO DEL GEN DE LA TIOPURINA S-METILTRANSFERASA EN POBLACION DE DADORES DE SANGRE DE UN HOSPITAL UNIVERSITARIO. | es-ES |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.type | | es-ES |