title: Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.
abstract: In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian component of the Brazilian population originated from. The most frequent mutations were V388M (21%), R261Q (16%), IVS10nt11 (13.4%), I65T (5.7%), and R252W (5%). The frequencies of the other four mutations (R261X, R408W, Y414C, and IVS12nt1) did not reach 2%. By testing these nine mutations, we were able to identify 64% of the PKU alleles in our sample. V388M frequency was higher than in any other known population and almost three times larger than that observed in Portugal, probably reflecting genetic drift. The mutation profile, as well as the relative frequency of the different mutations, suggest that the Minas Gerais population more closely resembles that of Portugal than do the other Brazilian populations that have already been tested.
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luciana Lara dos
authors.initials: LL
authors.lastname: Santos
authors.forename: Myrian de Castro
authors.initials: Mde C
authors.lastname: Magalhães
authors.forename: Adriana de Oliveira
authors.initials: Ade O
authors.lastname: Reis
authors.forename: Ana Lúcia Pimenta
authors.initials: AL
authors.lastname: Starling
authors.forename: José Nélio
authors.initials: JN
authors.lastname: Januário
authors.forename: Cleusa Graça da
authors.initials: CG
authors.lastname: Fonseca
authors.forename: Marcos José Burle de
authors.initials: MJ
authors.lastname: Aguiar
authors.forename: Maria Raquel Santos
authors.initials: MR
authors.lastname: Carvalho
mesh_terms: D001938:Brazil / Q000453:epidemiology; D004591:Electrophoresis, Polyacrylamide Gel; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase