Luciana Lara dos Santos, Myrian de Castro Magalhães, Adriana de Oliveira Reis, Ana Lúcia Pimenta Starling, José Nélio Januário, Cleusa Graça da Fonseca, Marcos José Burle de Aguiar, Maria Raquel Santos Carvalho
Published: February 24, 2006
Genet. Mol. Res. 5 (1) : 16-23
Cite this Article:
L.Lara dos Santos, Mde Castro Magalhães, Ade Oliveir Reis, A.Lúcia Pim Starling, J.Nélio Januário, C.Graça da Fonseca, M.José Burl de Aguiar, M.Raquel San Carvalho (2006). Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil. Genet. Mol. Res. 5(1): 16-23.
About the Authors
Luciana Lara dos Santos, Myrian de Castro Magalhães, Adriana de Oliveira Reis, Ana Lúcia Pimenta Starling, José Nélio Januário, Cleusa Graça da Fonseca, Marcos José Burle de Aguiar, Maria Raquel Santos Carvalho
Corresponding author
M.R.S. Carvalho
E-mail: mraquel@icb.ufmg.br
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.
Key words: Phenylalanine hydroxylase, Phenylketonuria, Mutation screening.