Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
GUTIERREZ GARCIA, Enna; BARRIOS GARCIA, Bárbara; GUTIERREZ GUTIERREZ, Reinaldo e DAMIANI ROSSEL, Astrea. Caracterización molecular de fenilcetonúricos cubanos. Rev Cubana Pediatr [online]. 2002, vol.74, n.2, pp. 101-105. ISSN 1561-3119.
Up to the present, over 500 mutations in human phenylalanine hdroxylase gene distributed along its 13 exons have been described, being exon 7 the one that has the highest number. The fact that phenylketonuria is caused by point mutations makes it necessary to use a method of rapid analysis of each individual. This study analyzes genomic DNA of 28 patients suffering from phenylketonuria and their parents from different regions of Cuba. Amplification by the polymerase chain reaction was made in the 13 exons before applying denaturating gradient gel electrophoresis and sequencing. Sixteen different mutations were found in 91% of patients independent chromosomes and the most frequent mutations were E280K and R261Q that comes from Galicia. Mendel´s inheritance was proved in the patients´ parents. The most frequent mutations found in Cuba do not match with those in Spain and Latin America.
Palavras-chave : PHENYLKETONURIAS [diagnosis]; PHENYLALANINE HYDROXYLASE [analysis]; PHENYLALANINE HYDROLASE [genetics]; MUTATION; DNA; POLYMERASE CHAIN REACTION; HEREDITARY DISEASES; MOLECULAR BIOLOGY.