Por favor, use este identificador para citar o enlazar este ítem: http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2691
Título : Phenylalanine hydroxylase deficiency in Mexico: Genotype-phenotype correlations, BH<inf>4</inf> responsiveness and evidence of a founder effect
Creador: Vela Amieva, Marcela Beatríz
Nivel de acceso: Open access
Palabras clave : Biopterina - análogos & derivados
Biopterina - uso tertapéutico
Preescolar
Análisis Mutacional de ADN
Efecto Fundador
Estudios de Asociación Genética
Haplotipos
Humanos
México
Mutación
Fenilalanina Hidroxilasa - genética
Fenilcetonurias - quimioterapia
Fenilcetonurias - genética
Resultado del Tratamiento
Biopterin - analogs & derivatives
Biopterin - therapeutic use
Child, Preschool
DNA Mutational Analysis
Founder Effect
Genetic Association Studies
Haplotypes
Humans
Mexico
Mutation
Phenylalanine Hydroxylase - genetics
Phenylketonurias - drug therapy
Phenylketonurias - genetics
Treatment Outcome
PKU
Hiperfenilalaninemia
Fenilcetonuria
Tetrahidrobiopterina
PKU
hyperphenylalaninemia
phenylketonuria
tetrahydrobiopterin
Descripción : The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions of responsiveness to tetrahydrobiopterin (BH<inf>4</inf>) have never been performed. We sequenced the PAH gene and determined the geographic origin of each allele, mini-haplotype associated, genotype-phenotype correlations and genotype-based prediction of BH<inf>4</inf> responsiveness in 48 Mexican patients. The mutational spectrum included 34 variants with c.60+5G>T being the most frequent (20.8%) and linked to haplotype 4.3 possibly because of a founder effect and/or genetic drift. Two new variants were found c.1A>T and c.969+6T>C. The genotype-phenotype correlation was concordant in 70.8%. The genotype-based prediction to BH<inf>4</inf>-responsiveness was 41.7%, this information could be useful for the rational selection of candidates for BH<inf>4</inf> testing and therapy. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Colaborador(es) u otros Autores: Abreu-González M
González-Del Angel A
Ibarra-González I
Fernández-Lainez C
Barrientos-Ríos R
Monroy-Santoyo S
Guillén-López S
Alcántara-Ortigoza Ma.
Fecha de publicación : 2015
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1111/cge.12444
Fuente: Clinical Genetics 88(1):62 - 67
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2691
Idioma: eng
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