title: [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
abstract: BACKGROUND
  Phenylketonuria (PKU) is an autosomal recessive, disease, heterogeneous at the molecular level, caused by mutations in the gene of phenylalanine hydroxylase (PAH). The objective of the present work was to identify mutations and their frequency in the Central Bohemian and Prague population in relation to the clinical phenotype.
  
  
  RESULTS
  The authors analyzed a group of 33 patients from 32 unrelated families. The phenotypic manifestations were classified as non-PKU hyperphenylalaninaemia (non-PKU-HPA), mild and classical PKU. Sixty-six mutant alleles of the PAH gene were analyzed by means of the polymerase chain reaction on a Perkin Elmer (480) apparatus and on PHC Techne. A total of eight mutations linked with five haplotypes were detected. R408W mutation linked with 2.4 haplotype was detected on 53% of mutant alleles. No type of mutation was detected by hitherto published procedures in 27% of mutant alleles.
  
  
  CONCLUSIONS
  The finding on the distribution and frequency of mutations indicate a genotypic homogeneity of the PKU population in the Central Bohemian area and Prague and are consistent with hitherto published data from the Czech Republic. The revealed data can be used in prenatal and postnatal DNA diagnosis and genotype classification of PKU.
authors.affiliation: Biologický ústav 1. LF UK, Praha.
authors.forename: S
authors.initials: S
authors.lastname: Růzicková
authors.forename: L
authors.initials: L
authors.lastname: Kozák
authors.forename: M
authors.initials: M
authors.lastname: Blazková
authors.forename: J
authors.initials: J
authors.lastname: Kapras
authors.forename: S
authors.initials: S
authors.lastname: St'astná
mesh_terms: D000483:Alleles; D018153:Czech Republic / Q000453:epidemiology; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D010651:Phenylalanine Hydroxylase