Distribution of Some Point Mutations in the Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from the Moscow Region

Abstract

Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies were determined: codon 408-56.4%; codon 158-8.1%; codon 261-3.2%, and IVS-12-16%.