Abstract
To investigate the molecular basis in phenylketonuria (PKU) in the population of southern Poland we characterized the restriction lenght polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase gene locus, screened for mutations with allele-specific oligonucleotides by amplification of the genomic DNA with the polymerase chain reaction and sequenced the exons of the PAH gene from 23 PKU families. 71.7% of all PKU alleles are characterized by the following five mutations: codon R408W, R261Q, R158Q, R252W and the splicing defect in intron 10. The splice mutation in intron 10 was detected by DdeI restriction analysis. In the investigated families the overall frequency for predictions in regard to the genotype of additional offspring was about 96%. With an overall frequency of about 98% the DNA diagnostic approach could be used to predict a phenotypically normal child (genotype: either normal/normal or normal/mutant).
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Zygulska, M., Eigel, A., Sutkowska, A. et al. MOLECULAR ANALYSIS OF PKU IN POLAND. Pediatr Res 32, 628 (1992). https://doi.org/10.1203/00006450-199211000-00142
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DOI: https://doi.org/10.1203/00006450-199211000-00142