Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.
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.
Santos
Luciana Lara dos
LL
Departamento de Biologia Geral, Instituto de Ciências Biológicas, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Magalhães
Myrian de Castro
Mde C
Reis
Adriana de Oliveira
Ade O
Starling
Ana Lúcia Pimenta
AL
Januário
José Nélio
JN
Fonseca
Cleusa Graça da
CG
Aguiar
Marcos José Burle de
MJ
Carvalho
Maria Raquel Santos
MR
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*
D010651:Phenylalanine Hydroxylase