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dc.contributorProyecto de Investigación Clínico Básico de la Dirección de Investigación del Hospital Clínico de la Universidad de Chile y Proyecto Fondecyt 1070954es-ES
dc.creatorÁlvarez, Luis; Sección de Gastroenterología. Departamento de Medicina Interna
dc.creatorVenegas, Mauricio; Sección de Gastroenterología. Departamento de Medicina Interna
dc.creatorLarrondo, Milton; Banco de Sangre
dc.creatorBecerra, Natalia; Sección de Gastroenterología. Departamento de Medicina Interna
dc.creatorCastro, Ariel; Unidad de Epidemiología
dc.creatorQuera, Rodrigo; Sección de Gastroenterología. Departamento de Medicina Interna|Servicio de Gastroenterología
dc.date2009-06-19
dc.date.accessioned2019-11-11T18:26:56Z
dc.date.available2019-11-11T18:26:56Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/243
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/110889
dc.descriptionThiopurine 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.formatapplication/msword
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/243/3
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/243/212
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/243/213
dc.sourceRevista Médica de Chile; Vol. 137, núm. 2 (2009): Febreroes-ES
dc.source0034-9887
dc.subjectes-ES
dc.titlePOLIMORFISMO DEL GEN DE LA TIOPURINA S-METILTRANSFERASA EN POBLACION DE DADORES DE SANGRE DE UN HOSPITAL UNIVERSITARIO.es-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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