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Identification of Disease Causing Mutations in Phenylketonuria by Denaturing Gradient Gel Electrophoresis Using the DCode System

lation methods commercially available. With this procedure DNA extracted from dried blood spots on Guthrie cards can be successfully analyzed.


Acknowledgements

This work was carried out within the framework of Biomed 1 GENE-CT93-0081. Further support was obtained from the Fonds ter Bevordering van het Wetenschappelijk Onderzoek in het DWI (FWI).


References
1. Guldberg P., Henriksen K.F. and Gttler F. Molecular Analysis of Phenylketonuria in Denmark: 99 % of the Mutations Detected by Denaturing Gradient Gel Electrophoresis. Genomics, 17, 141146 (1993).

2. Gttler F., Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Pediatr. Scand. 280 (Suppl): 180 (1989).

3. Michiels L., Franois B., Raus J. and Vandevyver C. Rapid identification of PKU-associated mutations by multiplex DGGE analysis of the PAH gene. J. of Inherited Metabolic Disease, 19, 735738, (1996).

4. Michiels L., Franois B., Raus J. and Vandevyver C. The identification of 7 new mutations in the phenylalanine hydroxylase gene associated with hyperphenylalanemia in the Belgian population. Human Mutation, Supplement 1, S123124, (1998).

5. Walsh P.S., Metzger D.A. and Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 10, 506513 (1991).

The Polymerase Chain Reaction (PCR) process is covered by patents owned by Hoffmann-LaRoche. Use of the PCR process requires a license.


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