title: Experience with preventive genetic testing of corneal donors in slovakia.
abstract: OBJECTIVE
  The purpose of this study was (1) to detect asymptomatic carriers of the prion protein gene mutation E200K, which is associated with Creutzfeldt-Jakob disease (CJD), in corneal donors and in the general population of Slovakia and (2) to assess the genetic testing of corneal donors as an effective preventive measure against iatrogenic infection in a country with an unusually high incidence of genetic CJD.
  
  
  METHODS
  The prion protein gene (PRNP) was analyzed in 1133 corneal donors and 970 control subjects to search for E200K mutation and to determine the genotype at codon 129.
  
  
  RESULTS
  Mutation E200K was found in 2 of the 1133 donors and in 4 of the 970 control subjects. The most frequent genotype at the codon 129 polymorphic region was methionine homozygous (48% of donors and controls).
  
  
  CONCLUSIONS
  An E200K mutation, which confers a risk of developing genetic CJD, was detected in corneal donors and in the general population. The majority of subjects were codon 129 methionine homozygous that increases susceptibility to CJD. Genetic testing of corneal donors in Slovakia is a useful and effective preventive measure against iatrogenic CJD through human corneal transplantation in the investigated population.
authors.affiliation: National Reference Centre for Prion Diseases, Research Base of Slovak Medical University, Bratislava, Slovakia. eva.mitrova@szu.sk
authors.forename: Eva
authors.initials: E
authors.lastname: Mitrová
authors.forename: Andrej
authors.initials: A
authors.lastname: Cernák
authors.forename: Dana
authors.initials: D
authors.lastname: Slivarichová
authors.forename: Silvia
authors.initials: S
authors.lastname: Koščová
authors.forename: Veronika
authors.initials: V
authors.lastname: Bernovská
authors.forename: Martin
authors.initials: M
authors.lastname: Cernák
mesh_terms: D017677:Age Distribution; D000368:Aged; D003062:Codon / Q000235:genetics; D003315:Cornea; D016039:Corneal Transplantation; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000635:transmission*; D018562:Disease Transmission, Infectious / Q000517:prevention & control*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008715:Methionine; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D018154:Slovakia; D014019:Tissue Donors; D014633:Valine
chemical_list: D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D008715:Methionine; D014633:Valine