Experience with preventive genetic testing of corneal donors in slovakia
| Autor: | Veronika Bernovská, Eva Mitrova, Silvia Koščová, Dana Slivarichova, Martin Cernak, Andrej Cernak |
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| Rok vydání: | 2011 |
| Předmět: |
Slovakia
Genotype Prions medicine.medical_treatment Population Gene mutation Polymerase Chain Reaction Creutzfeldt-Jakob Syndrome Prion Proteins PRNP Cornea Corneal Transplantation Age Distribution Methionine mental disorders medicine Disease Transmission Infectious Humans Point Mutation Genetic Testing education Codon Corneal transplantation Genetic testing Aged education.field_of_study medicine.diagnostic_test business.industry Valine Middle Aged Tissue Donors nervous system diseases Ophthalmology Immunology Mutation (genetic algorithm) Optometry business Asymptomatic carrier |
| Zdroj: | Cornea. 30(9) |
| ISSN: | 1536-4798 |
| Popis: | PURPOSE 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. |
| Databáze: | OpenAIRE |
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