dc.contributor | Fuente de Apoyo Financiero: Fondecyt N° 1100971 | es-ES |
dc.creator | Jorquera, Andrés; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile.Servicio de Salud Arauco, Ministerio de Salud de Chile | |
dc.creator | Solari, Sandra; Unidad Docente Asociada de Laboratorios Clínicos, Facultad de Medicina, Pontificia Universidad Católica de Chile. | |
dc.creator | Vollrath, Valeska; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile.Bioquímico, PhD. | |
dc.creator | Guerra, Irene; Unidad Docente Asociada de Laboratorios Clínicos, Facultad de Medicina, Pontificia Universidad Católica de Chile.Tecnólogo médico | |
dc.creator | Chianale, José; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile. | |
dc.creator | Cofre, Colomba; Unidad de Gastroenterología y Nutrición Pediátrica, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile.Facultad de Medicina, Universidad de Los Andes, Chile. | |
dc.creator | Kalergis, Alexis; Departamento de Genética Molecular y Microbiología, Facultad de Ciencias biológicas, Pontificia Universidad Católica de Chile. | |
dc.creator | Ibáñez, Patricio; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile. | |
dc.creator | Bueno, Susan; Departamento de Genética Molecular y Microbiología, Facultad de Ciencias biológicas, Pontificia Universidad Católica de Chile. | |
dc.creator | Alvarez-Lobos, Manuel; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile. | |
dc.date | 2012-06-21 | |
dc.date.accessioned | 2019-11-11T18:26:49Z | |
dc.date.available | 2019-11-11T18:26:49Z | |
dc.identifier | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/1797 | |
dc.identifier.uri | https://revistaschilenas.uchile.cl/handle/2250/110852 | |
dc.description | PHENOTYPE AND GENOTYPE OF THIOPURINE METHYLTRANSFERASE IN CHILEAN INDIVIDUALS Background: Thiopurines (azathioprine and 6-mercaptopurine) are highly effective medications but with potential adverse effects. Thiopurine methyltransferase (TMPT) is the key enzyme in their pharmacokinetics and is genetically regulated. A low activity of TPMT is associated with myelotoxicity. The genotype and enzyme activity can vary by ethnicity. Aim: To study the activity and genotype of TPMT in a group of Chilean subjects. Material and Methods: In 200 healthy adult blood donors, TPMT activity was determined by high performance liquid chromatography (HPLC). Deficient, low, normal or high levels were defined when enzymatic activity was ? 5, 6-24, 25-55 and ? 56 nmol/grHb/h, respectively. Genotyping of TPMT (*1, *2, *3A, *3B, *3C) was performed by PCR. Results: Seventy seven women (38.5%) and 123 men (61.5%), with an average age of 34.9 years were studied. Eighteen subjects (9%) had a low enzymatic activity, 178 (89%) had normal activity, 4 (2%) had high activity and no genotype deficient subjects were identified. The wild type genotype (*1) was found in 184 (92%) individuals and 16 (8%) were heterozygous for the variants: *2 (n=2), *3A (n=13) and *3C (n=1). No homozygous subjects for these variants were identified. Wild type genotype had an increased enzymatic activity (40.8±7.2 nmol/gHb/h compared to 21.2±3 nmol/gHb/h in the heterozygous group. p | es-ES |
dc.language | es | |
dc.publisher | Revista Médica de Chile | es-ES |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4163 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4164 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4165 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4440 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4441 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4442 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4443 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4444 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4445 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4446 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4447 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4448 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/4449 | |
dc.relation | http://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1797/5481 | |
dc.source | Revista Médica de Chile; Vol. 140, núm. 7 (2012): JULIO 2012 | es-ES |
dc.source | 0034-9887 | |
dc.subject | Drug hypersensitivity; Chile; Gentype; TPMT deficiency; Phenotype | es-ES |
dc.title | Genotipo y fenotipo de la enzima tiopurina metiltransferasa en población chilena. | es-ES |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.type | | es-ES |