Calculating risk changes after negative mutation test outcomes for autosomal dominant hereditary late-onset disorders
| Autor: | Arend Tibben, Benno Bonke, Dick Lindhout, Theo Stijnen |
|---|---|
| Přispěvatelé: | Psychiatry, Clinical Genetics, Epidemiology |
| Rok vydání: | 2006 |
| Předmět: |
Risk
medicine.medical_specialty Chromosome Disorders Disease Biology Risk Assessment Huntington's disease Late Onset Disorders Genetics medicine Humans Genetic Predisposition to Disease Genetic Testing Age of Onset Predictive testing False Negative Reactions Genetics (clinical) Genetic testing Genes Dominant medicine.diagnostic_test medicine.disease Pedigree Huntington Disease Mutation Medical genetics Age of onset Risk assessment Demography |
| Zdroj: | Heredity, 96(3), 259-261. Nature Publishing Group |
| ISSN: | 0018-067X |
| Popis: | We demonstrate, in a specific scenario, the effect of negative test results from relatives in families at risk for an autosomal dominant hereditary late-onset disorder. A hypothetical pedigree, of a family at risk of Huntington's disease, was used to demonstrate the consequences for the risk status of various family members in the case where relatives have been tested, and found to be mutation negative. We argue that accurate assessment of conditional probabilities in clinical genetics is important for individuals at risk for hereditary disorders with Mendelian transmission patterns; our formulae offer the opportunity -- when simplifying assumptions are met -- to determine the changed risk status of individuals in such cases. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|