"classical" form of PKU. The modifying interaction between different mutations in a PAH gene is revealed at formation clinical phenotype of phenylketonuria.
It was shown that the direct mutations analysis of a PAH gene, and also linkage analysis of STR and VNTR polymorphic markers is high informative for prenatal DNA-diagnostics of phenylketonuria in Ukraine.
Key words: phenylketonuria, phenylalanine hydroxilase gene, mutation, polymorphism.