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Título : Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns
Creador: González del Angel, Ariadna
Nivel de acceso: Open access
Palabras clave : Cromatografía Líquida de Alta Presión
Frecuencia de los Genes
Humanos
Recién nacidos
Metiltransferasas - genética
Mexico
Polimorfismo Genético
Chromatography, High Pressure Liquid
Gene Frequency
Humans
Infant, Newborn
Methyltransferases - genetics
Mexico
Polymorphism, Genetic
Farmacogenética, Tiopurina S-metiltransferasa, Polimorfismos
pharmacogenetics, Thiopurine S-methyltransferase polymorphisms
Descripción : Background: Thiopurine S-methyltransferase (TPMT) is involved in the toxicity and therapeutic efficacy of thiopurine drugs, and its gene exhibits genetic polymorphisms that differ across diverse populations. Four TPMT polymorphisms (TPMT*2, *3A, *3B and *3C) account for 80-95% of alleles that cause reduced enzyme activity. To date, only a single study in the Mexican population involving 108 individuals has been performed, but the regional and ethnic origin of this population was not described. Accordingly, information about the TPMT polymorphism in the Mexican population is limited. Objective: To determine the TPMT allele and genotype frequencies in a sample of newborns from Mexico City. Methods: Three hundred and sixty DNA samples from unrelated, anonymous individuals were obtained from dried blood spots collected on filter paper as part of the Newborn Screening National Program. Allele-specific polymerase chain reaction for the TPMT*2 allele and PCR restriction fragment length polymorphism for TPMT*3A, TPMT*3B, TPMT*3C alleles were used to determine the respective allelic and genotypic frequencies. Results and Discussion: Of 720 TPMT alleles analysed, 49 (6·81%) were deficiency alleles. The most common deficiency allele was TPMT*3A (5·69%), followed by TPMT*3C (0·56%), TPMT*3B (0·28%) and TPMT*2 (0·28%). Fourty-five newborns were heterozygous for one mutant allele (12·5%) and two showed a genotype with two deficiency alleles (0·56%). Despite its unique ethnic composition, our Mexican population exhibited variant allele frequencies that were similar to some Caucasian populations. Conclusion: Our data suggest that approximately 1 in 180 persons born in Mexico City might have low or undetectable TPMT enzyme activity, a frequency that, overall, is somewhat higher than that reported for Caucasian populations generally (1 in 300). © 2009 Blackwell Publishing Ltd.
Colaborador(es) u otros Autores: Bermúdez-López C
Alcántara-Ortigoza MA
Vela-Amieva M
Castillo-Cruz RA
Martínez V
Torres-Espíndola L
Fecha de publicación : 2009
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1111/j.1365-2710.2009.01058.x
Fuente: Journal of Clinical Pharmacy and Therapeutics 34(6):703 - 708
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2908
Idioma: eng
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