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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2908| 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: | |
| 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 |
| Aparece en las colecciones: | Artículos |
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