Nechyporenko M. Phenylalanine hydroxilase gene mutations and polymorphisms analysis of high risk phenylketonuria families

The analysis of mutations in 6 exons and 2 introns of a PAH gene was carried out in group of phenylketonuria patients from Ukraine. It was identified 11 different mutations and it was shown that a major role in determining of PKU could play mutation R408W, because this mutation were found in 57 % of PKU chromosomes. The present data about linkage disequilibrium between mutation R408W and STR- VNTR-polymorphic loci support the single founding event of mutation R408W and Balto-Slavonic origin of this mutation in Ukraine. There is established the association of R408W with the "classical" form of PKU. 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.