Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario

Background: 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 TMPT activity could develop severe myelosuppress...

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Autores principales:	Álvarez L,Luis, Venegas S,Mauricio, Larrondo L,Milton, Becerra B,Natalia, Castro L,Ariel, Quera P,Rodrigo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2009
Materias:	Blood donors Genetic polymorphism Methyltransferases
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000200001
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spelling	oai:scielo:S0034-988720090002000012009-06-10Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitarioÁlvarez L,LuisVenegas S,MauricioLarrondo L,MiltonBecerra B,NataliaCastro L,ArielQuera P,Rodrigo Blood donors Genetic polymorphism Methyltransferases Background: 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 TMPT 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, its assessment in the Chilean population is worthwhile. Aim: To investigate the TMPT gene polymorphism in a Chilean blood donor individuals. Subjects and Methods: The frequency of four allelic variants of the TPMT gene, 2 (G238C), 3A (G460A andA719G), 3B (G460A) and 3C (A719G) were analyzedin 210 Chilean blood donors, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and allele-specific PCR-based assays. Results: TPMT variants associated to low enzymatic activity, were detected in 16 subjects (8%), who had a heterozygous genotype (3A in 12; 3C in three and 2 in one subject). No TPMT3B allelic variant was found. The normal allele (wild-type) was found in 92% ofstudied individuals. Conclusions: The allele TPMT*3A, is the most prevalent in this group of Chilean blood donors, as in Caucasian populations.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.137 n.2 20092009-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000200001es10.4067/S0034-98872009000200001
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Blood donors Genetic polymorphism Methyltransferases
spellingShingle	Blood donors Genetic polymorphism Methyltransferases Álvarez L,Luis Venegas S,Mauricio Larrondo L,Milton Becerra B,Natalia Castro L,Ariel Quera P,Rodrigo Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
description	Background: 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 TMPT 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, its assessment in the Chilean population is worthwhile. Aim: To investigate the TMPT gene polymorphism in a Chilean blood donor individuals. Subjects and Methods: The frequency of four allelic variants of the TPMT gene, 2 (G238C), 3A (G460A andA719G), 3B (G460A) and 3C (A719G) were analyzedin 210 Chilean blood donors, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and allele-specific PCR-based assays. Results: TPMT variants associated to low enzymatic activity, were detected in 16 subjects (8%), who had a heterozygous genotype (3A in 12; 3C in three and 2 in one subject). No TPMT3B allelic variant was found. The normal allele (wild-type) was found in 92% ofstudied individuals. Conclusions: The allele TPMT*3A, is the most prevalent in this group of Chilean blood donors, as in Caucasian populations.
author	Álvarez L,Luis Venegas S,Mauricio Larrondo L,Milton Becerra B,Natalia Castro L,Ariel Quera P,Rodrigo
author_facet	Álvarez L,Luis Venegas S,Mauricio Larrondo L,Milton Becerra B,Natalia Castro L,Ariel Quera P,Rodrigo
author_sort	Álvarez L,Luis
title	Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
title_short	Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
title_full	Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
title_fullStr	Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
title_full_unstemmed	Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
title_sort	polimorfismo del gen de la tiopurina s-metiltransferasa en donantes de sangre de un hospital universitario
publisher	Sociedad Médica de Santiago
publishDate	2009
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000200001
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Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario

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