[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]

Authors in this contribution present the results of screening for mutations in PAH gene responsible for classical phenylketonuria (PKU), and that of haplotype analysis, based on DNA analysis in 49 Caucasian families with at least one affected child from Slovak Republic. The clearly predominant PKU mutation in this population was the R408W with proportion of 45.9% among all PKU mutations. In addition four other mutations have been identified: IVS12nt1-10.2%, R158Q-7.1%, R261Q-7.1%, and R252W-2.0%. the overall proportion of identified PKU mutations equals 72.4%. Considering the fact, that these mutations are amenable to rapid and rather simple detection using PCR, the DNA analysis is recommended as a method of direct diagnosis in clinical practice as well as in prevention.