A SIMPLIFIED METHOD FOR DETECTION OF THE MUTATIONS PREDOMINANTLY CAUSING CYSTIC-FIBROSIS AND PHENYLKETONURIA IN POLISH FAMILIES

Genomic DNA was isolated from dried blood specimens and subsequently u sed as a template in simplified PCR-based detection assays of delta F5 08 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of a mplification of CFTR gene were analyzed in NuSieve agarose gel. The am plification-created restriction site with TaqI digestion was used for detection of the PAH gene mutation.