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Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients

dc.creatorNicolini, H
dc.creatorCruz C
dc.creatorCamarena, B
dc.creatorFernanda Merino, M
dc.creatorBilbao, G
dc.creatorVela, M
dc.creatorVelázquez, A
dc.creatorPérez, B
dc.creatorDesviat, L
dc.creatorUgarte, M.
dc.date.accessioned2017-06-29T04:18:04Z
dc.date.available2017-06-29T04:18:04Z
dc.date.issued1995es_ES
dc.identifier197es_ES
dc.identifier.issn0188-4409es_ES
dc.identifier.urihttp://repositorio.inprf.gob.mx/handle/123456789/4891
dc.language.isoenges_ES
dc.relation26 (1) 53-57 p.es_ES
dc.relationversión del editores_ES
dc.rightsacceso cerradoes_ES
dc.titleMolecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patientses_ES
dc.typearticlees_ES
dc.contributor.affiliationDepartamento de Genética Psiquiátrica, Instituto Mexicano de Psiquiatría, México, D. F.es_ES
dc.relation.jnabreviadoARCH MED RESes_ES
dc.relation.journalArchives of Medical Researches_ES
dc.identifier.placeMéxicoes_ES
dc.date.published1995es_ES
dc.identifier.organizacionInstituto Mexicano de Psiquiatríaes_ES
dc.description.abstractotrodiomaThe molecular analysis of the human phenylalanine hydroxylase (PAH) gene in Mexican phenylketonuric (PKU) patients is described. We analyzed the restriction fragment length polymorphism (RFLP) haplotypes of five probands and ten non-affected relatives, belonging to four unrelated PKU families. Twenty-nine alleles were typified, corresponding to 12 different haplotypes. Eight RFLP haplotypes corresponded to those described in other populations, while the remaining were unreported haplotypes, appearing both on normal and PKU chromosomes. Using the polymerase chain reaction (PCR) and the allele-specific oligonucleotide assay (ASO), we also screened for the IVS10 mutation, one of the most common PAH gene mutations in Mediterranean countries. Forty-two percent of the PKU chromosomes analyzed bore the IVS10 mutation, although it was present in the heterozygous state in all cases. Our data show an important genetic heterogeneity at the PAH locus in the Mexican population, and report the genetic influence of the Spanish immigration to the American continent.es_ES


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