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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Januário, J. N. Aguiar, M. J. Reis, A. de O. Magalhães, M. de C. Carvalho, M. R. Fonseca, C. G. Santos, L. L. Starling, A. L. |
| Spatial Coverage | Brazil |
| Description | Country affiliation: Brazil Responsible library: BR1.1 Author Affiliation: Santos, L. L ( Universidade Federal de Minas Gerais. Departamento de Biologia Geral. Instituto de Ciências Biológicas. Belo Horizonte. BR); Januário, J. N ( Universidade Federal de Minas Gerais. Núcleo de Pesquisa em Apoio ao Diagnóstico. Belo Horizonte. BR); Starling, A. L ( Universidade Federal de Minas Gerais. Faculdade de Medicina. Departamento de Pediatria. Belo Horizonte. BR); Aguiar, M. J ( Universidade Federal de Minas Gerais. Núcleo de Pesquisa em Apoio ao Diagnóstico. Belo Horizonte. BR); Magalhães, M. de C ( Universidade Federal de Minas Gerais. Departamento de Biologia Geral. Instituto de Ciências Biológicas. Belo Horizonte. BR); Reis, A. de O ( Universidade Federal de Minas Gerais. Departamento de Biologia Geral. Instituto de Ciências Biológicas. Belo Horizonte. BR); Carvalho, M. R ( Universidade Federal de Minas Gerais. Departamento de Biologia Geral. Instituto de Ciências Biológicas. Belo Horizonte. BR); Fonseca, C. G ( Universidade Federal de Minas Gerais. Departamento de Biologia Geral. Instituto de Ciências Biológicas. Belo Horizonte. 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. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 1 |
| Volume Number | 5 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Infant, Newborn Mutation Genetics Phenylalanine Hydroxylase Phenylketonurias Epidemiology Electrophoresis, Polyacrylamide Gel Genetic Testing Neonatal Screening Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article |
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